T51R (p.Thr51Arg) variant of PIEZO2 (Q9H5I5)
T51R (p.Thr51Arg) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
T51R (p.Thr51Arg) variant details
- p.Thr51Arg
- ESP rs371432372
- ExAC rs371432372
- TOPMed rs371432372
- gnomAD rs371432372
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.79
- MetaLR 0.41
- MetaSVM -0.24
- CADD 22.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available