N57T (p.Asn57Thr) variant of MLH3 (DNA mismatch repair protein Mlh3)
N57T (p.Asn57Thr) 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.
N57T (p.Asn57Thr) variant details
- p.Asn57Thr
- rs376748258
- ClinGen CA390451431
- ClinVar RCV004244661
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- AlphaMissense 0.20
- MetaLR 0.91
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available