P44H (p.Pro44His) variant of ABCG8 (Q9H221)
P44H (p.Pro44His) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P44H (p.Pro44His) variant details
- p.Pro44His
- gnomAD rs1470061328
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.26
- CADD 23.70
- PolyPhen-2 0.45
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available