H37R (p.His37Arg) variant of ERCC2 (P18074)
H37R (p.His37Arg) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
H37R (p.His37Arg) variant details
- p.His37Arg
- rs749368007
- ClinGen CA9513909
- ClinVar RCV001935016
- ExAC rs749368007
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.59
- CADD 24.70
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available