R69Q (p.Arg69Gln) variant of ERCC5 (P28715)
R69Q (p.Arg69Gln) in ERCC5 (P28715) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R69Q (p.Arg69Gln) variant details
- p.Arg69Gln
- rs747957305
- NCI-TCGA Cosmic COSV6324
- cosmic curated COSV63247
- gnomAD rs747957305
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 32.00
- PolyPhen-2 0.90
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available