Y97H (p.Tyr97His) variant of MLH1 (DNA mismatch repair protein Mlh1)
Y97H (p.Tyr97His) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary nonpolyposis colorectal neoplasms; Colorectal cancer, hereditary nonp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
Y97H (p.Tyr97His) variant details
- p.Tyr97His
- Ensembl rs1553640297
- Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Colorectal cancer, hereditary nonp
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 28.70
- PolyPhen-2 0.81
- SIFT 0.03
- ClinVar: Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Colorectal cancer,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available