I40M (p.Ile40Met) variant of ABCA4 (P78363)
I40M (p.Ile40Met) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
I40M (p.Ile40Met) variant details
- p.Ile40Met
- TOPMed rs1404664758
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.37
- MetaLR 0.52
- MetaSVM 0.17
- CADD 22.80
- PolyPhen-2 0.45
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available