H34Y (p.His34Tyr) variant of ABCC9 (O60706)
H34Y (p.His34Tyr) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
H34Y (p.His34Tyr) variant details
- p.His34Tyr
- Ensembl rs1565502008
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.73
- CADD 25.80
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.015)
- Structural context available