N117S (p.Asn117Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
N117S (p.Asn117Ser) 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 0.12 / 1. The record also includes population frequency data and structural context.
N117S (p.Asn117Ser) variant details
- p.Asn117Ser
- TOPMed rs1174487457
- gnomAD rs1174487457
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.17
- MetaSVM -0.96
- CADD 7.54
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available