G64A (p.Gly64Ala) variant of XPC (Q01831)
G64A (p.Gly64Ala) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
G64A (p.Gly64Ala) variant details
- p.Gly64Ala
- rs183478541
- ClinGen CA2267779
- ClinVar RCV001356881
- 1000Genomes rs183478541
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.12
- CADD 4.27
- PolyPhen-2 0.02
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Structural context available