V20E (p.Val20Glu) variant of ABCD1 (P33897)
V20E (p.Val20Glu) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V20E (p.Val20Glu) variant details
- p.Val20Glu
- rs782480731
- ClinGen CA10549903
- ClinVar RCV002643668
- ExAC rs782480731
- Likely benign
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.48
- CADD 22.40
- PolyPhen-2 0.07
- SIFT 0.01
- ClinVar: Likely benign (Adrenoleukodystrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)