V26I (p.Val26Ile) variant of MLH3 (DNA mismatch repair protein Mlh3)
V26I (p.Val26Ile) 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 0.38 / 1. The record also includes population frequency data and structural context.
V26I (p.Val26Ile) variant details
- p.Val26Ile
- TOPMed rs964651295
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.26
- CADD 19.50
- PolyPhen-2 0.32
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available