L19L (p.Leu19Leu) variant of PIEZO2 (Q9H5I5)
L19L (p.Leu19Leu) in PIEZO2 (Q9H5I5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L19L (p.Leu19Leu) variant details
- p.Leu19Leu
- rs983494181
- gnomAD 18-10666803-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0925
- CADD 1.67
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available