S116N (p.Ser116Asn) variant of ABCA1 (O95477)
S116N (p.Ser116Asn) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S116N (p.Ser116Asn) variant details
- p.Ser116Asn
- Ensembl rs201992557
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.42
- MetaLR 0.92
- MetaSVM 1.06
- CADD 21.90
- PolyPhen-2 0.20
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available