L36F (p.Leu36Phe) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L36F (p.Leu36Phe) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L36F (p.Leu36Phe) variant details
- p.Leu36Phe
- rs2507962931
- ClinGen CA397128028
- ClinVar RCV003134863
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.36
- ESM-1b 0.70
- AlphaMissense 0.16
- MetaLR 0.43
- MetaSVM -0.27
- CADD 24.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available