L38P (p.Leu38Pro) variant of XPA (P23025)
L38P (p.Leu38Pro) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
L38P (p.Leu38Pro) variant details
- p.Leu38Pro
- TOPMed rs1435795217
- gnomAD rs1435795217
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.76
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available