S44L (p.Ser44Leu) variant of ERCC2 (P18074)
S44L (p.Ser44Leu) in ERCC2 (P18074) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
S44L (p.Ser44Leu) variant details
- p.Ser44Leu
- NCI-TCGA Cosmic COSV5554
- cosmic curated COSV55540
- Ensembl rs2123315038
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available