R26L (p.Arg26Leu) variant of MSH3 (DNA mismatch repair protein Msh3)
R26L (p.Arg26Leu) 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 population frequency data and structural context.
R26L (p.Arg26Leu) variant details
- p.Arg26Leu
- rs780517196
- ClinGen CA360265220
- ClinVar RCV003569268
- ExAC rs780517196
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.59
- AlphaMissense 0.38
- MetaLR 0.63
- MetaSVM 0.16
- CADD 24.70
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available