C40R (p.Cys40Arg) variant of MLH3 (DNA mismatch repair protein Mlh3)
C40R (p.Cys40Arg) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
C40R (p.Cys40Arg) variant details
- p.Cys40Arg
- TOPMed rs1892525593
- gnomAD rs1892525593
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.55
- CADD 28.30
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available