H60R (p.His60Arg) variant of ERCC5 (P28715)
H60R (p.His60Arg) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
H60R (p.His60Arg) variant details
- p.His60Arg
- gnomAD rs1199571357
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 25.50
- PolyPhen-2 0.93
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available