R17G (p.Arg17Gly) variant of ERCC3 (P19447)
R17G (p.Arg17Gly) in ERCC3 (P19447) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
R17G (p.Arg17Gly) variant details
- p.Arg17Gly
- ExAC rs779316093
- TOPMed rs779316093
- gnomAD rs779316093
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- ESM-1b 0.00
- AlphaMissense 0.23
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available