H78L (p.His78Leu) variant of PIEZO2 (Q9H5I5)
H78L (p.His78Leu) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
H78L (p.His78Leu) variant details
- p.His78Leu
- TOPMed rs932171957
- gnomAD rs932171957
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.37
- MetaLR 0.27
- MetaSVM -0.47
- CADD 22.90
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available