F30C (p.Phe30Cys) variant of SUFU (Suppressor of fused homolog)
F30C (p.Phe30Cys) in SUFU (Suppressor of fused homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
F30C (p.Phe30Cys) variant details
- p.Phe30Cys
- gnomAD 10-102504241-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.57
- CADD 24.30
- PolyPhen-2 0.15
- SIFT 0.14
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available