A54T (p.Ala54Thr) variant of XPA (P23025)
A54T (p.Ala54Thr) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- ExAC rs756578830
- gnomAD rs756578830
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.14
- CADD 24.00
- PolyPhen-2 0.49
- SIFT 0.36
- Most common in the East Asian population (allele frequency 8.2e-05)
- Structural context available