A2D (p.Ala2Asp) variant of XPC (Q01831)
A2D (p.Ala2Asp) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- TOPMed rs1047160068
- gnomAD rs1047160068
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.29
- CADD 15.10
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available