I50V (p.Ile50Val) variant of USH1C (Harmonin)
I50V (p.Ile50Val) 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 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I50V (p.Ile50Val) variant details
- p.Ile50Val
- rs1257461261
- ClinGen CA379798484
- ClinVar RCV001297923
- gnomAD rs1257461261
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.17
- CADD 23.70
- PolyPhen-2 0.32
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.93