H123R (p.His123Arg) variant of ABCC6 (O95255)
H123R (p.His123Arg) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
H123R (p.His123Arg) variant details
- p.His123Arg
- TOPMed rs1424170078
- gnomAD rs1424170078
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.19
- CADD 24.40
- PolyPhen-2 0.65
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00014)
- Structural context available