F37I (p.Phe37Ile) variant of USH2A (Usherin)
F37I (p.Phe37Ile) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
F37I (p.Phe37Ile) variant details
- p.Phe37Ile
- gnomAD rs1302813957
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.43
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available