K44N (p.Lys44Asn) variant of ERCC3 (P19447)
K44N (p.Lys44Asn) 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 0.22 / 1. The record also includes structural context.
K44N (p.Lys44Asn) variant details
- p.Lys44Asn
- Ensembl rs2104783068
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- ESM-1b 0.00
- AlphaMissense 0.55
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available