Q6E (p.Gln6Glu) variant of ABCA4 (P78363)
Q6E (p.Gln6Glu) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
Q6E (p.Gln6Glu) variant details
- p.Gln6Glu
- TOPMed rs1028516438
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.72
- MetaLR 0.88
- MetaSVM 0.92
- CADD 24.30
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available