N58D (p.Asn58Asp) variant of ABCA1 (O95477)
N58D (p.Asn58Asp) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
N58D (p.Asn58Asp) variant details
- p.Asn58Asp
- gnomAD rs1274571289
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.78
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available