I83S (p.Ile83Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
I83S (p.Ile83Ser) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I83S (p.Ile83Ser) variant details
- p.Ile83Ser
- 1000Genomes rs6500495
- ESP rs6500495
- ExAC rs6500495
- TOPMed rs6500495
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.06
- MetaSVM -1.00
- CADD 20.80
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available