M1V (p.Met1Val) variant of MLH3 (DNA mismatch repair protein Mlh3)
M1V (p.Met1Val) 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 0.90 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1892535492
- ClinGen CA390452887
- ClinVar RCV002796295
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- MetaLR 0.87
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.88
- 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)