A2T (p.Ala2Thr) variant of MSH2 (DNA mismatch repair protein Msh2)
A2T (p.Ala2Thr) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in LYNCH1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs63750466
- ClinGen CA021232
- ClinVar RCV000034558
- ClinVar RCV000076617
- Benign
- in LYNCH1
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.81
- MetaSVM 0.72
- CADD 31.00
- EBI: Benign (in LYNCH1)
- UniProt: Benign (in LYNCH1)
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available
- Cited in: Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). (PMID 16451135)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)