L84F (p.Leu84Phe) variant of PIEZO2 (Q9H5I5)
L84F (p.Leu84Phe) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L84F (p.Leu84Phe) variant details
- p.Leu84Phe
- TOPMed rs1415197380
- gnomAD rs1415197380
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.31
- MetaSVM -0.57
- CADD 23.60
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available