T8A (p.Thr8Ala) variant of MSH2 (DNA mismatch repair protein Msh2)
T8A (p.Thr8Ala) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
T8A (p.Thr8Ala) variant details
- p.Thr8Ala
- rs876660332
- ClinGen CA346728464
- cosmic curated COSV51883
- ClinVar RCV003759329
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome
- 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
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome)
- EBI: Likely benign (in dbSNP:rs17217716)
- UniProt: Likely benign (in dbSNP:rs17217716)
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)