P7S (p.Pro7Ser) variant of ABCD1 (P33897)
P7S (p.Pro7Ser) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- rs1557052134
- ClinGen CA415097241
- ClinVar RCV003878043
- gnomAD rs1557052134
- Likely benign
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.25
- CADD 3.34
- PolyPhen-2 0.02
- SIFT 0.28
- ClinVar: Likely benign (Adrenoleukodystrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)