V107I (p.Val107Ile) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
V107I (p.Val107Ile) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V107I (p.Val107Ile) variant details
- p.Val107Ile
- TOPMed rs1207326343
- gnomAD rs1207326343
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.19
- MetaSVM -0.90
- CADD 9.68
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available