Y24C (p.Tyr24Cys) variant of USH2A (Usherin)
Y24C (p.Tyr24Cys) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
Y24C (p.Tyr24Cys) variant details
- p.Tyr24Cys
- cosmic curated COSV56377
- TOPMed rs2039691686
- Missense
- Variant Prioritization Score for Impact Estimate 0.0432
- REVEL 0.02
- CADD 2.39
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available