T8M (p.Thr8Met) variant of MSH2 (DNA mismatch repair protein Msh2)
T8M (p.Thr8Met) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
T8M (p.Thr8Met) variant details
- p.Thr8Met
- rs17217716
- ClinGen CA020551
- cosmic curated COSV51875
- ClinVar RCV000076466
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.47
- MetaSVM -0.05
- CADD 22.90
- EBI: Benign (in dbSNP:rs17217716)
- UniProt: Benign (in dbSNP:rs17217716)
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Cited in: Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis… (PMID 10777691)
- Cited in: Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene. (PMID 12792735)