P47L (p.Pro47Leu) variant of PIEZO2 (Q9H5I5)
P47L (p.Pro47Leu) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- rs987807982
- gnomAD 18-10666717-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- ESM-1b 0.00
- AlphaMissense 0.97
- CADD 0.69
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available