T71R (p.Thr71Arg) variant of XPA (P23025)
T71R (p.Thr71Arg) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
T71R (p.Thr71Arg) variant details
- p.Thr71Arg
- ExAC rs747326646
- gnomAD rs747326646
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.37
- CADD 25.30
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available