F3S (p.Phe3Ser) variant of ABCA4 (P78363)
F3S (p.Phe3Ser) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F3S (p.Phe3Ser) variant details
- p.Phe3Ser
- gnomAD rs1439937348
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.54
- MetaLR 0.65
- MetaSVM 0.26
- CADD 23.00
- PolyPhen-2 0.40
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available