T50P (p.Thr50Pro) variant of PIEZO2 (Q9H5I5)
T50P (p.Thr50Pro) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T50P (p.Thr50Pro) variant details
- p.Thr50Pro
- TOPMed rs1486194607
- gnomAD rs1486194607
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.20
- MetaSVM -0.92
- CADD 17.17
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available