T114R (p.Thr114Arg) variant of ABCC6 (O95255)
T114R (p.Thr114Arg) in ABCC6 (O95255) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
T114R (p.Thr114Arg) variant details
- p.Thr114Arg
- TOPMed rs1441562603
- gnomAD rs1441562603
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.49
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available