R2456P (p.Arg2456Pro) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R2456P (p.Arg2456Pro) 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 0.87 / 1. The record also includes structural context.
R2456P (p.Arg2456Pro) variant details
- p.Arg2456Pro
- rs587776988
- ClinGen CA397071500
- ClinVar RCV004555187
- Likely pathogenic
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or p
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.80
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Dehydrated hereditary stomatocytosis with or without pseudohyper)
- EBI: Likely pathogenic (in DHS1)
- UniProt: Likely pathogenic (in DHS1)
- Structural context available