S338C (p.Ser338Cys) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
S338C (p.Ser338Cys) 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 Rare venous malformation; Lymphatic malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S338C (p.Ser338Cys) variant details
- p.Ser338Cys
- 1000Genomes rs112081600
- ExAC rs112081600
- TOPMed rs112081600
- gnomAD rs112081600
- Likely pathogenic
- Rare venous malformation; Lymphatic malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.17
- MetaSVM -0.97
- CADD 4.10
- ClinVar: Likely pathogenic (Rare venous malformation; Lymphatic malformation)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available