N99D (p.Asn99Asp) variant of ABCA4 (P78363)
N99D (p.Asn99Asp) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N99D (p.Asn99Asp) variant details
- p.Asn99Asp
- 1000Genomes rs575809706
- ExAC rs575809706
- gnomAD rs575809706
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.09
- CADD 19.30
- PolyPhen-2 0.04
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available