V24E (p.Val24Glu) variant of XPA (P23025)
V24E (p.Val24Glu) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V24E (p.Val24Glu) variant details
- p.Val24Glu
- 1000Genomes rs199616261
- ExAC rs199616261
- TOPMed rs199616261
- gnomAD rs199616261
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.10
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 1.00
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available