R14P (p.Arg14Pro) variant of MLH3 (DNA mismatch repair protein Mlh3)
R14P (p.Arg14Pro) 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 0.76 / 1. The record also includes structural context.
R14P (p.Arg14Pro) variant details
- p.Arg14Pro
- rs760072474
- ClinGen CA390451874
- ClinVar RCV004051875
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- AlphaMissense 0.30
- MetaLR 0.87
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available