L40F (p.Leu40Phe) variant of PIEZO2 (Q9H5I5)
L40F (p.Leu40Phe) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
L40F (p.Leu40Phe) variant details
- p.Leu40Phe
- Ensembl rs2145918267
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.33
- MetaLR 0.46
- MetaSVM -0.12
- CADD 29.40
- Structural context available