L9Q (p.Leu9Gln) variant of ERCC5 (P28715)
L9Q (p.Leu9Gln) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and published literature.
L9Q (p.Leu9Gln) variant details
- p.Leu9Gln
- gnomAD 13-102846292-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available