P16L (p.Pro16Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
P16L (p.Pro16Leu) 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.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- Ensembl rs1597495079
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.70
- ESM-1b 0.12
- AlphaMissense 0.85
- MetaLR 0.56
- MetaSVM 0.11
- CADD 23.20
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available