A17T (p.Ala17Thr) variant of SUFU (Suppressor of fused homolog)
A17T (p.Ala17Thr) in SUFU (Suppressor of fused homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- gnomAD 10-102504201-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.07
- CADD 22.60
- PolyPhen-2 0.06
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available