A3E (p.Ala3Glu) variant of ABCC6 (O95255)
A3E (p.Ala3Glu) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- TOPMed rs2049136227
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.06
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.6e-05)
- Structural context available