N58D (p.Asn58Asp) variant of ABCA4 (P78363)
N58D (p.Asn58Asp) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
N58D (p.Asn58Asp) variant details
- p.Asn58Asp
- gnomAD rs1662606229
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.68
- MetaLR 0.97
- MetaSVM 1.10
- CADD 26.70
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available