N4K (p.Asn4Lys) variant of ERCC2 (P18074)
N4K (p.Asn4Lys) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N4K (p.Asn4Lys) variant details
- p.Asn4Lys
- gnomAD rs1972560240
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.14
- CADD 23.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available