D56G (p.Asp56Gly) variant of MLH3 (DNA mismatch repair protein Mlh3)
D56G (p.Asp56Gly) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D56G (p.Asp56Gly) variant details
- p.Asp56Gly
- rs772808535
- ClinGen CA7276083
- ClinVar RCV003100787
- ClinVar RCV004059868
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.98
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)