L69F (p.Leu69Phe) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L69F (p.Leu69Phe) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L69F (p.Leu69Phe) variant details
- p.Leu69Phe
- gnomAD rs1337068385
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.13
- ESM-1b 0.29
- AlphaMissense 0.15
- MetaLR 0.22
- MetaSVM -0.84
- CADD 21.70
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available