L81P (p.Leu81Pro) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L81P (p.Leu81Pro) 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 0.64 / 1. The record also includes population frequency data and structural context.
L81P (p.Leu81Pro) variant details
- p.Leu81Pro
- gnomAD rs537591043
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.67
- ESM-1b 0.86
- AlphaMissense 0.56
- MetaLR 0.48
- MetaSVM -0.07
- CADD 26.50
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available