F75L (p.Phe75Leu) variant of XPA (P23025)
F75L (p.Phe75Leu) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
F75L (p.Phe75Leu) variant details
- p.Phe75Leu
- gnomAD rs1364642460
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.73
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available