S107A (p.Ser107Ala) variant of ABCA1 (O95477)
S107A (p.Ser107Ala) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S107A (p.Ser107Ala) variant details
- p.Ser107Ala
- rs376321182
- ClinGen CA5169427
- ClinVar RCV002900528
- ESP rs376321182
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.20
- MetaLR 0.74
- MetaSVM 0.03
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00054)
- Structural context available