N117K (p.Asn117Lys) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
N117K (p.Asn117Lys) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
N117K (p.Asn117Lys) variant details
- p.Asn117Lys
- ExAC rs757593385
- TOPMed rs757593385
- gnomAD rs757593385
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.26
- ESM-1b 0.44
- AlphaMissense 0.55
- MetaLR 0.08
- MetaSVM -0.98
- CADD 1.29
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available