H56Q (p.His56Gln) variant of ABCC6 (O95255)
H56Q (p.His56Gln) in ABCC6 (O95255) 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 and structural context.
H56Q (p.His56Gln) variant details
- p.His56Gln
- Ensembl rs2049081601
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.05
- CADD 14.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available