N99S (p.Asn99Ser) variant of ABCA4 (P78363)
N99S (p.Asn99Ser) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N99S (p.Asn99Ser) variant details
- p.Asn99Ser
- gnomAD rs1380689567
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.17
- MetaLR 0.13
- MetaSVM -0.89
- CADD 23.40
- PolyPhen-2 0.66
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available