H55D (p.His55Asp) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
H55D (p.His55Asp) 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 0.49 / 1. The record also includes population frequency data and structural context.
H55D (p.His55Asp) variant details
- p.His55Asp
- gnomAD rs1235654061
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.30
- MetaLR 0.26
- MetaSVM -0.62
- CADD 23.40
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available