L14F (p.Leu14Phe) variant of XPA (P23025)
L14F (p.Leu14Phe) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- TOPMed rs1829084223
- gnomAD rs1829084223
- Missense
- Variant Prioritization Score for Impact Estimate 0.0934
- REVEL 0.10
- CADD 4.97
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the Middle Eastern population (allele frequency 0.00036)
- Structural context available