P93H (p.Pro93His) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
P93H (p.Pro93His) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P93H (p.Pro93His) variant details
- p.Pro93His
- gnomAD rs1214697607
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.13
- MetaSVM -1.04
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available