G59D (p.Gly59Asp) variant of XPC (Q01831)
G59D (p.Gly59Asp) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
G59D (p.Gly59Asp) variant details
- p.Gly59Asp
- ExAC rs774670281
- gnomAD rs774670281
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.05
- CADD 5.67
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available