V49L (p.Val49Leu) variant of USH1C (Harmonin)
V49L (p.Val49Leu) 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 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V49L (p.Val49Leu) variant details
- p.Val49Leu
- rs146817459
- ClinGen CA5905153
- ClinVar RCV002685621
- ESP rs146817459
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.17
- CADD 22.70
- PolyPhen-2 0.35
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.867