G24V (p.Gly24Val) variant of SMO (Protein smoothened)
G24V (p.Gly24Val) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G24V (p.Gly24Val) variant details
- p.Gly24Val
- TOPMed rs989530778
- gnomAD rs989530778
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.25
- MetaLR 0.18
- MetaSVM -0.87
- CADD 21.10
- PolyPhen-2 0.21
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available