A2020V (p.Ala2020Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A2020V (p.Ala2020Val) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
A2020V (p.Ala2020Val) variant details
- p.Ala2020Val
- rs587777764
- ClinGen CA082756
- ClinVar RCV000049235
- ClinVar RCV002307467
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- ESM-1b 1.00
- AlphaMissense 0.58
- MetaLR 0.59
- MetaSVM -0.10
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in DHS1)
- UniProt: Pathogenic (in DHS1)
- Structural context available
- Cited in: Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. (PMID 23479567)
- Cited in: Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16… (PMID 9718354)