A2G (p.Ala2Gly) variant of XPC (Q01831)
A2G (p.Ala2Gly) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- TOPMed rs1047160068
- gnomAD rs1047160068
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.16
- CADD 8.47
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available