LDLR p.Asp857=
c.2571T>C · rs1253644586 · VCV2568144
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Cardiovascular phenotype
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 -4 | GERP -2.8 |
| Overall | ||
| CADD | 1.21 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- LDLR
- Protein
- p.Asp857=
- Coding
- c.2571T>C
- MANE Select
- NM_000527
- dbSNP
- rs1253644586
- Type
- single nucleotide variant
- Location
- chr19:11131304 (GRCh38)
- Gene constraint
- LOEUF 1.091 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 75.81 · 36 PDB
- Residue 857
- the 'required for mylip-triggered down-regulation of ldlr' region
Similar variants
- LDLR c.1061-1G>C Pathogenic/Likely pathogenic ★★ same condition
- LDLR c.1186+1G>T Pathogenic ★★ same condition
- LDLR c.1186+2T>G Pathogenic/Likely pathogenic ★★ same condition
- LDLR c.1586+1G>A Pathogenic/Likely pathogenic ★★ same condition
- LDLR c.1587-1G>A Pathogenic/Likely pathogenic ★★ same condition
- LDLR c.1587-2A>G Pathogenic/Likely pathogenic ★★ same condition
- LDLR c.1587-2A>T Pathogenic/Likely pathogenic ★★ same condition
- LDLR c.1706-1G>T Pathogenic/Likely pathogenic ★★ same condition
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/ldlr-p-asp857 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown