F25S (p.Phe25Ser) variant of ABCA4 (P78363)
F25S (p.Phe25Ser) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
F25S (p.Phe25Ser) variant details
- p.Phe25Ser
- ExAC rs757050873
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.59
- MetaLR 0.62
- MetaSVM 0.39
- CADD 25.20
- PolyPhen-2 0.20
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available