P13T (p.Pro13Thr) variant of SMO (Protein smoothened)
P13T (p.Pro13Thr) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P13T (p.Pro13Thr) variant details
- p.Pro13Thr
- gnomAD 7-129189188-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.23
- CADD 9.60
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available