P16L (p.Pro16Leu) variant of PIEZO2 (Q9H5I5)
P16L (p.Pro16Leu) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- Ensembl rs2146314459
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.69
- ESM-1b 0.00
- AlphaMissense 0.94
- MetaLR 0.55
- MetaSVM 0.12
- CADD 25.60
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available