G60R (p.Gly60Arg) variant of MLH3 (DNA mismatch repair protein Mlh3)
G60R (p.Gly60Arg) 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 0.96 / 1. The record also includes population frequency data, published literature, and structural context.
G60R (p.Gly60Arg) variant details
- p.Gly60Arg
- rs1412532548
- ClinGen CA390451412
- ClinVar RCV002805489
- TOPMed rs1412532548
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)