P47Q (p.Pro47Gln) variant of PIEZO2 (Q9H5I5)
P47Q (p.Pro47Gln) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P47Q (p.Pro47Gln) variant details
- p.Pro47Gln
- gnomAD rs1190752171
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.51
- MetaSVM 0.02
- CADD 25.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00057)
- Structural context available