A18S (p.Ala18Ser) variant of MLH3 (DNA mismatch repair protein Mlh3)
A18S (p.Ala18Ser) 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 0.50 / 1. The record also includes structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- rs2139614677
- ClinGen CA390451844
- ClinVar RCV004331434
- Ensembl rs2139614677
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- AlphaMissense 0.12
- MetaLR 0.57
- MetaSVM -0.07
- PolyPhen-2 0.97
- SIFT 0.14
- MutPred 0.41
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available