L11R (p.Leu11Arg) variant of MSH3 (DNA mismatch repair protein Msh3)
L11R (p.Leu11Arg) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- ExAC rs777602777
- gnomAD rs777602777
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.16
- CADD 13.20
- PolyPhen-2 0.05
- SIFT 0.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available