L34Q (p.Leu34Gln) variant of MSH3 (DNA mismatch repair protein Msh3)
L34Q (p.Leu34Gln) 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 0.61 / 1. The record also includes structural context.
L34Q (p.Leu34Gln) variant details
- p.Leu34Gln
- rs2112797278
- ClinGen CA360265303
- ClinVar RCV001904787
- Ensembl rs2112797278
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.06
- MetaLR 0.73
- MetaSVM 0.56
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available