K12E (p.Lys12Glu) variant of MLH3 (DNA mismatch repair protein Mlh3)
K12E (p.Lys12Glu) 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 0.64 / 1. The record also includes published literature and structural context.
K12E (p.Lys12Glu) variant details
- p.Lys12Glu
- rs1892532750
- ClinGen CA390451920
- ClinVar RCV001337238
- Ensembl rs1892532750
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- AlphaMissense 0.22
- MetaLR 0.71
- MetaSVM 0.58
- PolyPhen-2 0.61
- SIFT 0.01
- MutPred 0.47
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)