I17V (p.Ile17Val) variant of USH1C (Harmonin)
I17V (p.Ile17Val) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I17V (p.Ile17Val) variant details
- p.Ile17Val
- rs1179635643
- ClinGen CA379800944
- ClinVar RCV001323281
- gnomAD rs1179635643
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.06
- CADD 23.40
- PolyPhen-2 0.12
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.752