F25V (p.Phe25Val) variant of USH2A (Usherin)
F25V (p.Phe25Val) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
F25V (p.Phe25Val) variant details
- p.Phe25Val
- ESP rs370619684
- TOPMed rs370619684
- gnomAD rs370619684
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.02
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available