P18T (p.Pro18Thr) variant of MSH3 (DNA mismatch repair protein Msh3)
P18T (p.Pro18Thr) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
P18T (p.Pro18Thr) variant details
- p.Pro18Thr
- rs2112797069
- ClinGen CA360265136
- ClinVar RCV001875550
- Ensembl rs2112797069
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.08
- MetaLR 0.37
- MetaSVM -0.81
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available