D63Y (p.Asp63Tyr) variant of MLH1 (DNA mismatch repair protein Mlh1)
D63Y (p.Asp63Tyr) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
D63Y (p.Asp63Tyr) variant details
- p.Asp63Tyr
- Ensembl rs63750850
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.76
- MetaSVM 0.90
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available