Q53K (p.Gln53Lys) variant of PIEZO2 (Q9H5I5)
Q53K (p.Gln53Lys) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q53K (p.Gln53Lys) variant details
- p.Gln53Lys
- TOPMed rs1361875355
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.10
- MetaSVM -0.94
- CADD 21.30
- Population evidence available
- Structural context available