F56S (p.Phe56Ser) variant of ABCA4 (P78363)
F56S (p.Phe56Ser) 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.
F56S (p.Phe56Ser) variant details
- p.Phe56Ser
- ExAC rs747766711
- gnomAD rs747766711
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.89
- MetaLR 0.95
- MetaSVM 1.09
- CADD 25.50
- PolyPhen-2 0.34
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available