P17L (p.Pro17Leu) variant of ABCG8 (Q9H221)
P17L (p.Pro17Leu) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- gnomAD 2-43839103-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.19
- MetaLR 0.33
- MetaSVM -0.76
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available