S28R (p.Ser28Arg) variant of ABCC6 (O95255)
S28R (p.Ser28Arg) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S28R (p.Ser28Arg) variant details
- p.Ser28Arg
- ExAC rs770233922
- TOPMed rs770233922
- gnomAD rs770233922
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.10
- CADD 9.81
- PolyPhen-2 0.14
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available