K59N (p.Lys59Asn) variant of ERCC3 (P19447)
K59N (p.Lys59Asn) in ERCC3 (P19447) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes structural context.
K59N (p.Lys59Asn) variant details
- p.Lys59Asn
- ExAC rs779898806
- gnomAD rs779898806
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- ESM-1b 0.00
- AlphaMissense 0.88
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available