D304V (p.Asp304Val) variant of MLH1 (DNA mismatch repair protein Mlh1)
D304V (p.Asp304Val) 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 Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
D304V (p.Asp304Val) variant details
- p.Asp304Val
- rs63750993
- ClinGen CA013044
- ClinVar RCV000075932
- ClinVar RCV001250011
- Likely pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Lynch syndrome)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients. (PMID 10882759)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)