K31R (p.Lys31Arg) variant of ABCD1 (P33897)
K31R (p.Lys31Arg) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K31R (p.Lys31Arg) variant details
- p.Lys31Arg
- rs782454198
- ClinGen CA10549906
- ClinVar RCV002922346
- ExAC rs782454198
- Conflicting interpretations
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.33
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Conflicting classifications of pathogenicity (Adrenoleukodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00045)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)