F36Y (p.Phe36Tyr) variant of ABCA4 (P78363)
F36Y (p.Phe36Tyr) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
F36Y (p.Phe36Tyr) variant details
- p.Phe36Tyr
- TOPMed rs1662654854
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.78
- MetaLR 0.85
- MetaSVM 0.90
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available