A21S (p.Ala21Ser) variant of USH1C (Harmonin)
A21S (p.Ala21Ser) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- cosmic curated COSV10720
- 1000Genomes rs181215175
- ExAC rs181215175
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.32
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.122