R43Q (p.Arg43Gln) variant of ERCC5 (P28715)
R43Q (p.Arg43Gln) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R43Q (p.Arg43Gln) variant details
- p.Arg43Gln
- rs758174644
- ClinGen CA7041058
- cosmic curated COSV63247
- ClinVar RCV003443226
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 24.40
- PolyPhen-2 0.11
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available