S67T (p.Ser67Thr) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
S67T (p.Ser67Thr) 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 0.50 / 1. The record also includes population frequency data and structural context.
S67T (p.Ser67Thr) variant details
- p.Ser67Thr
- gnomAD rs1177637892
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.41
- MetaLR 0.46
- MetaSVM -0.14
- CADD 24.60
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available