C40Y (p.Cys40Tyr) variant of MLH3 (DNA mismatch repair protein Mlh3)
C40Y (p.Cys40Tyr) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
C40Y (p.Cys40Tyr) variant details
- p.Cys40Tyr
- rs746448677
- ClinGen CA7276095
- ClinVar RCV000472084
- ClinVar RCV004022853
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.58
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)