R10W (p.Arg10Trp) variant of USH1C (Harmonin)
R10W (p.Arg10Trp) in USH1C (Harmonin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R10W (p.Arg10Trp) variant details
- p.Arg10Trp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.20
- CADD 33.00
- PolyPhen-2 0.64
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.81