D90G (p.Asp90Gly) variant of XPC (Q01831)
D90G (p.Asp90Gly) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D90G (p.Asp90Gly) variant details
- p.Asp90Gly
- Ensembl rs1574977233
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.14
- CADD 24.50
- PolyPhen-2 0.41
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available