T48P (p.Thr48Pro) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
T48P (p.Thr48Pro) 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 0.15 / 1. The record also includes population frequency data and structural context.
T48P (p.Thr48Pro) variant details
- p.Thr48Pro
- gnomAD rs1906264473
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.22
- MetaSVM -0.90
- CADD 13.10
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available