S66A (p.Ser66Ala) variant of ABCC6 (O95255)
S66A (p.Ser66Ala) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S66A (p.Ser66Ala) variant details
- p.Ser66Ala
- TOPMed rs1256169470
- gnomAD rs1256169470
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.23
- CADD 25.50
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available