S94R (p.Ser94Arg) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
S94R (p.Ser94Arg) 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 0.20 / 1. The record also includes population frequency data and structural context.
S94R (p.Ser94Arg) variant details
- p.Ser94Arg
- gnomAD rs1318995975
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.31
- MetaLR 0.18
- MetaSVM -0.83
- CADD 17.90
- Population evidence available
- Structural context available