A441D (p.Ala441Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
A441D (p.Ala441Asp) 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 MLH1-related disorder; Hereditary nonpolyposis colon cancer; Hereditary nonpolyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A441D (p.Ala441Asp) variant details
- p.Ala441Asp
- TOPMed rs1575537656
- Likely pathogenic
- MLH1-related disorder; Hereditary nonpolyposis colon cancer; Hereditary nonpolyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Likely pathogenic (MLH1-related disorder; Hereditary nonpolyposis colon cancer; Her)
- EBI: Variant of uncertain significance (in LYNCH2)
- UniProt: Uncertain significance (in LYNCH2)
- Population evidence available
- Structural context available