A3S (p.Ala3Ser) variant of ABCC6 (O95255)
A3S (p.Ala3Ser) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- TOPMed rs1461014933
- gnomAD rs1461014933
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.06
- CADD 12.60
- PolyPhen-2 0.05
- SIFT 0.23
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available