A65T (p.Ala65Thr) variant of XPA (P23025)
A65T (p.Ala65Thr) in XPA (P23025) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A65T (p.Ala65Thr) variant details
- p.Ala65Thr
- rs1487243894
- NCI-TCGA Cosmic COSV6430
- TOPMed rs1487243894
- gnomAD rs1487243894
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.07
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.78
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available