A14E (p.Ala14Glu) variant of SUFU (Suppressor of fused homolog)
A14E (p.Ala14Glu) in SUFU (Suppressor of fused homolog) 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.
A14E (p.Ala14Glu) variant details
- p.Ala14Glu
- gnomAD 10-102504193-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.11
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available