E11K (p.Glu11Lys) variant of ERCC5 (P28715)
E11K (p.Glu11Lys) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and published literature.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- gnomAD 13-102846297-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available