K39R (p.Lys39Arg) variant of MLH3 (DNA mismatch repair protein Mlh3)
K39R (p.Lys39Arg) 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 0.36 / 1. The record also includes population frequency data and structural context.
K39R (p.Lys39Arg) variant details
- p.Lys39Arg
- rs2503336939
- ClinGen CA390451547
- ClinVar RCV004049840
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.37
- CADD 23.80
- PolyPhen-2 0.60
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available