A42P (p.Ala42Pro) variant of MLH3 (DNA mismatch repair protein Mlh3)
A42P (p.Ala42Pro) 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 0.42 / 1. The record also includes structural context.
A42P (p.Ala42Pro) variant details
- p.Ala42Pro
- rs748676497
- ClinGen CA390451531
- ClinVar RCV004054637
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.28
- MetaLR 0.26
- MetaSVM -0.58
- PolyPhen-2 1.00
- SIFT 0.12
- MutPred 0.46
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available