N52D (p.Asn52Asp) variant of ERCC5 (P28715)
N52D (p.Asn52Asp) 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.
N52D (p.Asn52Asp) variant details
- p.Asn52Asp
- ESP rs141212999
- TOPMed rs141212999
- gnomAD rs141212999
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 25.80
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available