P6T (p.Pro6Thr) variant of SMO (Protein smoothened)
P6T (p.Pro6Thr) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- gnomAD 7-129189167-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.20
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available