H36Y (p.His36Tyr) variant of ABCG5 (Q9H222)
H36Y (p.His36Tyr) in ABCG5 (Q9H222) 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.
H36Y (p.His36Tyr) variant details
- p.His36Tyr
- Ensembl rs892316704
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 22.90
- PolyPhen-2 0.59
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available