G24A (p.Gly24Ala) variant of SMO (Protein smoothened)
G24A (p.Gly24Ala) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G24A (p.Gly24Ala) variant details
- p.Gly24Ala
- TOPMed rs989530778
- gnomAD rs989530778
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.21
- MetaLR 0.18
- MetaSVM -0.94
- CADD 18.90
- PolyPhen-2 0.04
- SIFT 0.95
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available