I2V (p.Ile2Val) variant of MLH3 (DNA mismatch repair protein Mlh3)
I2V (p.Ile2Val) 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 0.70 / 1. The record also includes population frequency data and structural context.
I2V (p.Ile2Val) variant details
- p.Ile2Val
- rs2503339854
- ClinGen CA390452867
- ClinVar RCV004050872
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.75
- CADD 24.00
- PolyPhen-2 0.97
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available