H58R (p.His58Arg) variant of ABCC6 (O95255)
H58R (p.His58Arg) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
H58R (p.His58Arg) variant details
- p.His58Arg
- TOPMed rs1443741562
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.06
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available