L14I (p.Leu14Ile) variant of SMO (Protein smoothened)
L14I (p.Leu14Ile) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L14I (p.Leu14Ile) variant details
- p.Leu14Ile
- TOPMed rs916719717
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.12
- MetaLR 0.21
- MetaSVM -0.96
- CADD 12.30
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 2.3e-06)
- Structural context available