T8R (p.Thr8Arg) variant of MSH2 (DNA mismatch repair protein Msh2)
T8R (p.Thr8Arg) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
T8R (p.Thr8Arg) variant details
- p.Thr8Arg
- rs17217716
- ClinGen CA16610971
- ClinVar RCV000460417
- ClinVar RCV000564460
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.51
- MetaSVM -0.26
- CADD 22.10
- EBI: Benign (in dbSNP:rs17217716)
- UniProt: Benign (in dbSNP:rs17217716)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)