D91Y (p.Asp91Tyr) variant of USH1C (Harmonin)
D91Y (p.Asp91Tyr) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
D91Y (p.Asp91Tyr) variant details
- p.Asp91Tyr
- cosmic curated COSV50017
- gnomAD rs1342634019
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.27
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available