V24L (p.Val24Leu) variant of MLH1 (DNA mismatch repair protein Mlh1)
V24L (p.Val24Leu) 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 nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
V24L (p.Val24Leu) variant details
- p.Val24Leu
- Ensembl rs1348994712
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.86
- MetaSVM 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available