L14P (p.Leu14Pro) variant of PIEZO2 (Q9H5I5)
L14P (p.Leu14Pro) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- Ensembl rs2146314484
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.41
- MetaSVM -0.20
- CADD 28.00
- Structural context available