F22L (p.Phe22Leu) variant of USH2A (Usherin)
F22L (p.Phe22Leu) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
F22L (p.Phe22Leu) variant details
- p.Phe22Leu
- TOPMed rs1330680909
- gnomAD rs1330680909
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.05
- CADD 13.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available