L14P (p.Leu14Pro) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L14P (p.Leu14Pro) 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 0.62 / 1. The record also includes population frequency data and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- Ensembl rs1908112233
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.45
- MetaSVM -0.17
- CADD 23.50
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available