I7M (p.Ile7Met) variant of ABCA4 (P78363)
I7M (p.Ile7Met) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I7M (p.Ile7Met) variant details
- p.Ile7Met
- TOPMed rs1308464856
- gnomAD rs1308464856
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.15
- MetaLR 0.10
- MetaSVM -0.98
- CADD 23.30
- PolyPhen-2 0.55
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available