L11V (p.Leu11Val) variant of MLH1 (DNA mismatch repair protein Mlh1)
L11V (p.Leu11Val) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- rs864622596
- ClinGen CA350564
- ClinVar RCV000206543
- ClinVar RCV003417746
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available