G60W (p.Gly60Trp) variant of MLH3 (DNA mismatch repair protein Mlh3)
G60W (p.Gly60Trp) 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 0.92 / 1. The record also includes population frequency data and structural context.
G60W (p.Gly60Trp) variant details
- p.Gly60Trp
- rs1412532548
- ClinGen CA390451411
- cosmic curated COSV10586
- ClinVar RCV004521135
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.97
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.91
- CADD 27.30
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available