S3L (p.Ser3Leu) variant of PIEZO2 (Q9H5I5)
S3L (p.Ser3Leu) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S3L (p.Ser3Leu) variant details
- p.Ser3Leu
- rs372099481
- gnomAD 18-10672725-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- ESM-1b 0.00
- AlphaMissense 0.39
- CADD 9.85
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available