P93L (p.Pro93Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
P93L (p.Pro93Leu) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P93L (p.Pro93Leu) variant details
- p.Pro93Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.15
- MetaSVM -1.03
- CADD 14.80
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available