V89D (p.Val89Asp) variant of ABCC6 (O95255)
V89D (p.Val89Asp) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V89D (p.Val89Asp) variant details
- p.Val89Asp
- TOPMed rs1159736192
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.14
- CADD 22.80
- PolyPhen-2 0.56
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available