D65H (p.Asp65His) variant of MLH3 (DNA mismatch repair protein Mlh3)
D65H (p.Asp65His) 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 population frequency data, published literature, and structural context.
D65H (p.Asp65His) variant details
- p.Asp65His
- rs774137288
- ClinGen CA7276080
- ClinVar RCV003100948
- ClinVar RCV004060951
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.74
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)