L11I (p.Leu11Ile) variant of MSH3 (DNA mismatch repair protein Msh3)
L11I (p.Leu11Ile) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
L11I (p.Leu11Ile) variant details
- p.Leu11Ile
- 1000Genomes rs372442835
- ESP rs372442835
- ExAC rs372442835
- gnomAD rs372442835
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.18
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available