L14M (p.Leu14Met) variant of PIEZO2 (Q9H5I5)
L14M (p.Leu14Met) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- cosmic curated COSV11409
- TOPMed rs920937103
- gnomAD rs920937103
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.42
- ESM-1b 0.13
- AlphaMissense 0.19
- MetaLR 0.38
- MetaSVM -0.31
- CADD 24.30
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available