S54N (p.Ser54Asn) variant of USH1C (Harmonin)
S54N (p.Ser54Asn) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S54N (p.Ser54Asn) variant details
- p.Ser54Asn
- gnomAD rs1850979805
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.09
- CADD 18.60
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.626