I7L (p.Ile7Leu) variant of ABCA4 (P78363)
I7L (p.Ile7Leu) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I7L (p.Ile7Leu) variant details
- p.Ile7Leu
- ExAC rs754924450
- TOPMed rs754924450
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.12
- MetaLR 0.01
- MetaSVM -0.95
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available