H57R (p.His57Arg) variant of ABCC6 (O95255)
H57R (p.His57Arg) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Pseudoxanthoma elasticum, forme fruste; Arterial calcif. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
H57R (p.His57Arg) variant details
- p.His57Arg
- 1000Genomes rs374778258
- ESP rs374778258
- ExAC rs374778258
- TOPMed rs374778258
- Conflicting interpretations
- Inborn genetic diseases; Pseudoxanthoma elasticum, forme fruste; Arterial calcif
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.05
- CADD 6.15
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Pseudoxanthoma elasticum, forme fruste;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.0006)
- Structural context available