A19S (p.Ala19Ser) variant of ABCD1 (P33897)
A19S (p.Ala19Ser) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- rs965462099
- ClinGen CA337233489
- ClinVar RCV001797965
- ClinVar RCV002541315
- Conflicting interpretations
- not specified; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.61
- CADD 21.10
- PolyPhen-2 0.41
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; Adrenoleukodystrophy)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00016)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)