N99H (p.Asn99His) variant of ABCA4 (P78363)
N99H (p.Asn99His) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
N99H (p.Asn99His) variant details
- p.Asn99His
- 1000Genomes rs575809706
- ExAC rs575809706
- gnomAD rs575809706
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.27
- MetaLR 0.22
- MetaSVM -0.61
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available