G47R (p.Gly47Arg) variant of ERCC5 (P28715)
G47R (p.Gly47Arg) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- cosmic curated COSV10467
- gnomAD rs1417696811
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 26.10
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available