I83N (p.Ile83Asn) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
I83N (p.Ile83Asn) 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 0.31 / 1. The record also includes population frequency data and structural context.
I83N (p.Ile83Asn) variant details
- p.Ile83Asn
- 1000Genomes rs6500495
- ESP rs6500495
- ExAC rs6500495
- TOPMed rs6500495
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.08
- MetaSVM -0.96
- CADD 23.10
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available