N117I (p.Asn117Ile) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
N117I (p.Asn117Ile) 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 0.24 / 1. The record also includes population frequency data and structural context.
N117I (p.Asn117Ile) variant details
- p.Asn117Ile
- TOPMed rs1174487457
- gnomAD rs1174487457
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.50
- MetaLR 0.11
- MetaSVM -1.08
- CADD 15.10
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available