P27T (p.Pro27Thr) variant of MSH2 (DNA mismatch repair protein Msh2)
P27T (p.Pro27Thr) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P27T (p.Pro27Thr) variant details
- p.Pro27Thr
- rs878853826
- ClinGen CA10581989
- ClinVar RCV000226454
- ClinVar RCV000664273
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.64
- MetaSVM 0.26
- CADD 25.70
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:TU population (allele frequency 0.1)
- 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)