P47P (p.Pro47Pro) variant of PIEZO2 (Q9H5I5)
P47P (p.Pro47Pro) in PIEZO2 (Q9H5I5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P47P (p.Pro47Pro) variant details
- p.Pro47Pro
- rs1395499664
- gnomAD 18-10666716-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0816
- CADD 0.17
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available