PRLR p.Asn385=
c.1155T>C · rs534398516 · VCV3044456
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.406%, sas)
Conditions
1
PRLR-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.73 | GERP -3.4, phastCons 0.008 |
| Overall | ||
| CADD | 4.677 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.406%
South Asian · 370/91,076 alleles
Filtering AF
0.372%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.359%
Overall
0.0234%
378/1,613,984 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.406% | 246 |
| Middle Eastern | 0.0495% | 2,020 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,625 |
| Admixed American | 0.00167% | 60,002 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- PRLR
- Protein
- p.Asn385=
- Coding
- c.1155T>C
- MANE Select
- NM_000949
- dbSNP
- rs534398516
- Type
- single nucleotide variant
- Location
- chr5:35065803 (GRCh38)
- Gene constraint
- LOEUF 0.438 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 61.67 · 12 PDB
Disease context
PRLR-related disorder
Similar variants
- PRLR p.Ile170Leu Conflicting classifications of pathogenicity ⚠ same condition
- PRLR p.Glu175Lys Likely benign ⚠ same condition
- PRLR p.Gly362= Likely benign same condition
- PRLR p.Glu485Ala Uncertain significance ★★ ⚠ same type
- PRLR p.Ile79Val Uncertain significance ★★ ⚠ same type
- PRLR p.Thr490Met Uncertain significance ★★ ⚠ same type
- PRLR c.685+7G>A Benign ★★ same type
- PRLR p.Glu470= Benign ★★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/prlr-p-asn385 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown