L22S (p.Leu22Ser) variant of MLH3 (DNA mismatch repair protein Mlh3)
L22S (p.Leu22Ser) in MLH3 (DNA mismatch repair protein Mlh3) 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 0.68 / 1. The record also includes population frequency data and structural context.
L22S (p.Leu22Ser) variant details
- p.Leu22Ser
- rs1299756121
- ClinGen CA390451786
- ClinVar RCV004054450
- TOPMed rs1299756121
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.71
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available