D50Y (p.Asp50Tyr) variant of PMS1 (PMS1 protein homolog 1)
D50Y (p.Asp50Tyr) in PMS1 (PMS1 protein homolog 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
D50Y (p.Asp50Tyr) variant details
- p.Asp50Tyr
- NCI-TCGA Cosmic COSV5971
- cosmic curated COSV59714
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available