K70E (p.Lys70Glu) variant of MLH1 (DNA mismatch repair protein Mlh1)
K70E (p.Lys70Glu) 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 Lynch syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
K70E (p.Lys70Glu) variant details
- p.Lys70Glu
- rs1241846894
- ClinGen CA352035693
- ClinVar RCV001923950
- Ensembl rs1241846894
- Uncertain significance
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- ESM-1b 1.00
- AlphaMissense 0.17
- MutPred 0.47
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available