L15V (p.Leu15Val) variant of SMO (Protein smoothened)
L15V (p.Leu15Val) in SMO (Protein smoothened) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- rs2150637798
- ClinGen CA369234702
- ClinVar RCV003152654
- Ensembl rs2150637798
- Benign
- See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- AlphaMissense 0.09
- MetaLR 0.27
- MetaSVM -0.89
- PolyPhen-2 0.00
- SIFT 0.34
- MutPred 0.09
- ClinVar: Benign (See cases)
- EBI: Benign
- UniProt: Benign
- Structural context available