L21R (p.Leu21Arg) variant of SMO (Protein smoothened)
L21R (p.Leu21Arg) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L21R (p.Leu21Arg) variant details
- p.Leu21Arg
- gnomAD 7-129189213-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.36
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available