S1117L (p.Ser1117Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
S1117L (p.Ser1117Leu) 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 PIEZO1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S1117L (p.Ser1117Leu) variant details
- p.Ser1117Leu
- rs587777765
- ClinGen CA082757
- ClinVar RCV000049235
- ClinVar RCV003955382
- Uncertain significance
- PIEZO1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.07
- CADD 11.10
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (PIEZO1-related disorder)
- EBI: Pathogenic (in DHS1)
- UniProt: Pathogenic (in DHS1)
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- 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)