P17A (p.Pro17Ala) variant of ABCG8 (Q9H221)
P17A (p.Pro17Ala) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P17A (p.Pro17Ala) variant details
- p.Pro17Ala
- gnomAD 2-43839102-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.15
- MetaLR 0.31
- MetaSVM -0.73
- CADD 1.71
- PolyPhen-2 0.03
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available