C1064F (p.Cys1064Phe) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
C1064F (p.Cys1064Phe) 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 0.79 / 1. The record also includes structural context.
C1064F (p.Cys1064Phe) variant details
- p.Cys1064Phe
- rs1904821405
- ClinGen CA397106992
- ClinVar RCV001257446
- ClinVar RCV001729823
- Likely pathogenic
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or p
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.63
- MetaSVM 0.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Dehydrated hereditary stomatocytosis with or without pseudohyper)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available