S102L (p.Ser102Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
S102L (p.Ser102Leu) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S102L (p.Ser102Leu) variant details
- p.Ser102Leu
- rs752012401
- ClinGen CA8233304
- ClinVar RCV003419498
- ExAC rs752012401
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.12
- MetaSVM -1.02
- CADD 16.60
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available