L15V (p.Leu15Val) variant of PIEZO2 (Q9H5I5)
L15V (p.Leu15Val) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- TOPMed rs1252002250
- gnomAD rs1252002250
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.35
- MetaLR 0.43
- MetaSVM -0.15
- CADD 25.90
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available