S63C (p.Ser63Cys) variant of ABCA1 (O95477)
S63C (p.Ser63Cys) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
S63C (p.Ser63Cys) variant details
- p.Ser63Cys
- Ensembl rs1838980179
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.89
- MetaLR 0.98
- MetaSVM 1.06
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available