N114H (p.Asn114His) variant of ERCC2 (P18074)
N114H (p.Asn114His) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
N114H (p.Asn114His) variant details
- p.Asn114His
- Ensembl rs773632957
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.62
- CADD 26.60
- PolyPhen-2 0.81
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available