S82F (p.Ser82Phe) variant of USH1C (Harmonin)
S82F (p.Ser82Phe) in USH1C (Harmonin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S82F (p.Ser82Phe) variant details
- p.Ser82Phe
- ExAC rs769021971
- TOPMed rs769021971
- gnomAD rs769021971
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.43
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- USH1C PDZ domain domainome 1.0: score 0.159