L14P (p.Leu14Pro) variant of SMO (Protein smoothened)
L14P (p.Leu14Pro) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- gnomAD rs1793442965
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.18
- MetaLR 0.25
- MetaSVM -0.82
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available