P44L (p.Pro44Leu) variant of ABCG8 (Q9H221)
P44L (p.Pro44Leu) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- gnomAD 2-43844574-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.26
- MetaLR 0.47
- MetaSVM -0.21
- CADD 20.60
- PolyPhen-2 0.08
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available