L73Q (p.Leu73Gln) variant of PIEZO2 (Q9H5I5)
L73Q (p.Leu73Gln) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L73Q (p.Leu73Gln) variant details
- p.Leu73Gln
- gnomAD rs1178255291
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.60
- MetaLR 0.44
- MetaSVM -0.15
- CADD 35.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available