H55N (p.His55Asn) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
H55N (p.His55Asn) 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 0.42 / 1. The record also includes population frequency data and structural context.
H55N (p.His55Asn) variant details
- p.His55Asn
- gnomAD rs1235654061
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.23
- MetaSVM -0.70
- CADD 22.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available