K59R (p.Lys59Arg) variant of ERCC3 (P19447)
K59R (p.Lys59Arg) in ERCC3 (P19447) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
K59R (p.Lys59Arg) variant details
- p.Lys59Arg
- rs2468070901
- ClinGen CA2580063794
- ClinVar RCV002857250
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available