A40V (p.Ala40Val) variant of USH1C (Harmonin)
A40V (p.Ala40Val) 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 0.15 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- NCI-TCGA TCGA novel
- Ensembl rs1850983645
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.04
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.119