A7T (p.Ala7Thr) variant of XPA (P23025)
A7T (p.Ala7Thr) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- rs776601238
- ClinGen CA5148938
- ClinVar RCV002606455
- ExAC rs776601238
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0425
- REVEL 0.03
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available