K8E (p.Lys8Glu) variant of ERCC5 (P28715)
K8E (p.Lys8Glu) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and published literature.
K8E (p.Lys8Glu) variant details
- p.Lys8Glu
- gnomAD 13-102846288-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available