I19V (p.Ile19Val) variant of MLH1 (DNA mismatch repair protein Mlh1)
I19V (p.Ile19Val) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LYNCH2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
I19V (p.Ile19Val) variant details
- p.Ile19Val
- TOPMed rs63750648
- gnomAD rs63750648
- Pathogenic
- in LYNCH2
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 27.40
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available