H57D (p.His57Asp) variant of ABCC6 (O95255)
H57D (p.His57Asp) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H57D (p.His57Asp) variant details
- p.His57Asp
- TOPMed rs2049081457
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.08
- CADD 22.20
- PolyPhen-2 0.07
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available