R15W (p.Arg15Trp) variant of ERCC5 (P28715)
R15W (p.Arg15Trp) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R15W (p.Arg15Trp) variant details
- p.Arg15Trp
- Ensembl rs2140511578
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available