N52H (p.Asn52His) variant of ERCC5 (P28715)
N52H (p.Asn52His) in ERCC5 (P28715) 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.
N52H (p.Asn52His) variant details
- p.Asn52His
- ESP rs141212999
- TOPMed rs141212999
- gnomAD rs141212999
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 25.10
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available