F12L (p.Phe12Leu) variant of USH2A (Usherin)
F12L (p.Phe12Leu) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
F12L (p.Phe12Leu) variant details
- p.Phe12Leu
- ExAC rs756209948
- TOPMed rs756209948
- gnomAD rs756209948
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.07
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available