H118R (p.His118Arg) variant of ERCC2 (P18074)
H118R (p.His118Arg) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
H118R (p.His118Arg) variant details
- p.His118Arg
- ExAC rs747684939
- gnomAD rs747684939
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.73
- CADD 26.60
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available