L14R (p.Leu14Arg) variant of SMO (Protein smoothened)
L14R (p.Leu14Arg) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- gnomAD rs1793442965
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.25
- MetaLR 0.26
- MetaSVM -0.82
- CADD 17.20
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available