A7G (p.Ala7Gly) variant of XPA (P23025)
A7G (p.Ala7Gly) in XPA (P23025) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- TOPMed rs1228453951
- gnomAD rs1228453951
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0595
- REVEL 0.03
- CADD 5.52
- PolyPhen-2 0.00
- SIFT 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available