R61Q (p.Arg61Gln) variant of ERCC5 (P28715)
R61Q (p.Arg61Gln) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
R61Q (p.Arg61Gln) variant details
- p.Arg61Gln
- ExAC rs774884182
- TOPMed rs774884182
- gnomAD rs774884182
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- CADD 33.00
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available