L58S (p.Leu58Ser) variant of ERCC5 (P28715)
L58S (p.Leu58Ser) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L58S (p.Leu58Ser) variant details
- p.Leu58Ser
- gnomAD rs1282864712
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 28.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available