F38C (p.Phe38Cys) variant of ABCG8 (Q9H221)
F38C (p.Phe38Cys) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
F38C (p.Phe38Cys) variant details
- p.Phe38Cys
- Ensembl rs1558796477
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.75
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available