P17H (p.Pro17His) variant of ABCG8 (Q9H221)
P17H (p.Pro17His) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P17H (p.Pro17His) variant details
- p.Pro17His
- cosmic curated COSV99575
- TOPMed rs1668464811
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.29
- CADD 15.50
- PolyPhen-2 0.34
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available