T8S (p.Thr8Ser) variant of MSH2 (DNA mismatch repair protein Msh2)
T8S (p.Thr8Ser) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
T8S (p.Thr8Ser) variant details
- p.Thr8Ser
- rs876660332
- ClinGen CA10577912
- ClinVar RCV000218068
- ClinVar RCV002515713
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- ESM-1b 1.00
- AlphaMissense 0.07
- MetaLR 0.42
- MetaSVM -0.57
- PolyPhen-2 0.01
- SIFT 0.63
- EBI: Likely benign (in dbSNP:rs17217716)
- UniProt: Likely benign (in dbSNP:rs17217716)
- 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)