A23T (p.Ala23Thr) variant of XPC (Q01831)
A23T (p.Ala23Thr) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- TOPMed rs538602141
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.04
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available