A99S (p.Ala99Ser) variant of USH2A (Usherin)
A99S (p.Ala99Ser) 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 0.12 / 1. The record also includes population frequency data and structural context.
A99S (p.Ala99Ser) variant details
- p.Ala99Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.03
- CADD 4.52
- PolyPhen-2 0.01
- SIFT 0.64
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available