D56N (p.Asp56Asn) variant of MLH3 (DNA mismatch repair protein Mlh3)
D56N (p.Asp56Asn) 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 0.96 / 1. The record also includes population frequency data and structural context.
D56N (p.Asp56Asn) variant details
- p.Asp56Asn
- rs760255710
- ClinGen CA7276084
- ClinVar RCV004283396
- ExAC rs760255710
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 0.86
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available