A29S (p.Ala29Ser) variant of MLH1 (DNA mismatch repair protein Mlh1)
A29S (p.Ala29Ser) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lynch syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes published literature and structural context.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- rs63750656
- ClinGen CA012662
- ClinVar RCV000132377
- ClinVar RCV000201970
- Pathogenic
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- ESM-1b 0.00
- AlphaMissense 0.10
- MutPred 0.78
- ClinVar: Pathogenic (Lynch syndrome 1)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate… (PMID 12658575)
- Cited in: Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. (PMID 16083711)