P26T (p.Pro26Thr) variant of SMO (Protein smoothened)
P26T (p.Pro26Thr) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P26T (p.Pro26Thr) variant details
- p.Pro26Thr
- gnomAD 7-129189227-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.15
- CADD 17.10
- PolyPhen-2 0.02
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available