D669Y (p.Asp669Tyr) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
D669Y (p.Asp669Tyr) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
D669Y (p.Asp669Tyr) variant details
- p.Asp669Tyr
- rs1597457977
- ClinGen CA397114282
- ClinVar RCV001029751
- ClinVar RCV001784564
- Pathogenic/Likely pathogenic
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or p
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 27.80
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Dehydrated hereditary stomatocytosis with or without pseudohyper)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available