S50R (p.Ser50Arg) variant of ABCA4 (P78363)
S50R (p.Ser50Arg) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S50R (p.Ser50Arg) variant details
- p.Ser50Arg
- gnomAD rs1252712183
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -0.97
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available