V598M (p.Val598Met) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
V598M (p.Val598Met) 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 not provided; Non-immune hydrops fetalis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
V598M (p.Val598Met) variant details
- p.Val598Met
- rs2142820621
- ClinGen CA397115295
- ClinVar RCV001375989
- ClinVar RCV001780276
- Pathogenic/Likely pathogenic
- not provided; Non-immune hydrops fetalis
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.10
- MetaSVM -1.01
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Non-immune hydrops fetalis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis… (PMID 25052315)