K11N (p.Lys11Asn) variant of ERCC3 (P19447)
K11N (p.Lys11Asn) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
K11N (p.Lys11Asn) variant details
- p.Lys11Asn
- ExAC rs746412466
- TOPMed rs746412466
- gnomAD rs746412466
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.44
- CADD 21.50
- PolyPhen-2 0.04
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available