Y40F (p.Tyr40Phe) variant of ABCG8 (Q9H221)
Y40F (p.Tyr40Phe) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Y40F (p.Tyr40Phe) variant details
- p.Tyr40Phe
- gnomAD 2-43844562-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.59
- MetaLR 0.63
- MetaSVM 0.30
- CADD 23.70
- PolyPhen-2 0.42
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available