D1066G (p.Asp1066Gly) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
D1066G (p.Asp1066Gly) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.71 / 1. The record also includes population frequency data and structural context.
D1066G (p.Asp1066Gly) variant details
- p.Asp1066Gly
- rs1904552378
- ClinGen CA397105942
- ClinVar RCV001257445
- ClinVar RCV001729822
- Likely pathogenic
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or p
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 28.50
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Likely pathogenic (Dehydrated hereditary stomatocytosis with or without pseudohyper)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available