K67E (p.Lys67Glu) variant of XPA (P23025)
K67E (p.Lys67Glu) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
K67E (p.Lys67Glu) variant details
- p.Lys67Glu
- ExAC rs767594576
- TOPMed rs767594576
- gnomAD rs767594576
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.32
- CADD 25.90
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available