NHERF1 p.Pro44=
c.132C>A · VCV3693014
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -5 | GERP -4.2 |
| Overall | ||
| CADD | 8.781 | 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
- NHERF1
- Protein
- p.Pro44=
- Coding
- c.132C>A
- MANE Select
- NM_004252
- Type
- single nucleotide variant
- Location
- chr17:74748978 (GRCh38)
- Structure
- AlphaFold pLDDT 73.02 · 22 PDB
- Residue 44
- the pdz 1 domain
Similar variants
- NHERF1 p.Pro44Ala Conflicting classifications of pathogenicity ★ ⚠ same residue
- NHERF1 p.Ala120Val Uncertain significance ★★ ⚠ same type
- NHERF1 p.Ala81Val Uncertain significance ★★ ⚠ same type
- NHERF1 p.Arg151Trp Uncertain significance ★★ same type
- NHERF1 p.Arg153Trp Uncertain significance ★★ ⚠ same type
- NHERF1 p.Arg194Gln Uncertain significance ★★ ⚠ same type
- NHERF1 p.Arg198His Uncertain significance ★★ same type
- NHERF1 p.Arg270Cys Uncertain significance ★★ ⚠ 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/nherf1-p-pro44 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown