C8G (p.Cys8Gly) variant of ABCC6 (O95255)
C8G (p.Cys8Gly) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
C8G (p.Cys8Gly) variant details
- p.Cys8Gly
- TOPMed rs1251550884
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.20
- CADD 16.60
- PolyPhen-2 0.41
- SIFT 0.09
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available