T48K (p.Thr48Lys) variant of PIEZO2 (Q9H5I5)
T48K (p.Thr48Lys) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T48K (p.Thr48Lys) variant details
- p.Thr48Lys
- 1000Genomes rs538545186
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.54
- MetaLR 0.36
- MetaSVM -0.50
- CADD 26.90
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available