I79V (p.Ile79Val) variant of PIEZO2 (Q9H5I5)
I79V (p.Ile79Val) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PIEZO2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I79V (p.Ile79Val) variant details
- p.Ile79Val
- rs2034587941
- ClinGen CA402028479
- ClinVar RCV004527921
- TOPMed rs2034587941
- Uncertain significance
- PIEZO2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.37
- MetaSVM -0.42
- CADD 21.30
- ClinVar: Uncertain significance (PIEZO2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.3e-06)
- Structural context available