A12T (p.Ala12Thr) variant of MSH3 (DNA mismatch repair protein Msh3)
A12T (p.Ala12Thr) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- rs1580537725
- ClinGen CA360264835
- ClinVar RCV000795775
- Ensembl rs1580537725
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.10
- AlphaMissense 0.09
- MetaLR 0.37
- MetaSVM -0.81
- CADD 11.70
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available