I79L (p.Ile79Leu) variant of CHM (P24386)
I79L (p.Ile79Leu) in CHM (P24386) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I79L (p.Ile79Leu) variant details
- p.Ile79Leu
- TOPMed rs1931439189
- gnomAD rs1931439189
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.04
- MetaLR 0.08
- MetaSVM -1.06
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.60
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00037)
- Structural context available