A99V (p.Ala99Val) variant of USH2A (Usherin)
A99V (p.Ala99Val) in USH2A (Usherin) 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 0.09 / 1. The record also includes population frequency data and structural context.
A99V (p.Ala99Val) variant details
- p.Ala99Val
- NCI-TCGA Cosmic COSV5636
- cosmic curated COSV56362
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0875
- REVEL 0.02
- CADD 7.36
- PolyPhen-2 0.08
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available