S102W (p.Ser102Trp) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
S102W (p.Ser102Trp) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S102W (p.Ser102Trp) variant details
- p.Ser102Trp
- ExAC rs752012401
- TOPMed rs752012401
- gnomAD rs752012401
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.32
- MetaSVM -0.76
- CADD 22.80
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available