Q16R (p.Gln16Arg) variant of ERCC5 (P28715)
Q16R (p.Gln16Arg) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q16R (p.Gln16Arg) variant details
- p.Gln16Arg
- TOPMed rs1226729518
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- CADD 18.00
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available