I36T (p.Ile36Thr) variant of PIEZO2 (Q9H5I5)
I36T (p.Ile36Thr) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
I36T (p.Ile36Thr) variant details
- p.Ile36Thr
- ESP rs375901716
- ExAC rs375901716
- TOPMed rs375901716
- gnomAD rs375901716
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.30
- MetaLR 0.29
- MetaSVM -0.44
- CADD 26.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available