P12L (p.Pro12Leu) variant of SUFU (Suppressor of fused homolog)
P12L (p.Pro12Leu) in SUFU (Suppressor of fused homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- gnomAD 10-102504187-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.14
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available