T98P (p.Thr98Pro) variant of ABCC6 (O95255)
T98P (p.Thr98Pro) 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 0.05 / 1. The record also includes population frequency data and structural context.
T98P (p.Thr98Pro) variant details
- p.Thr98Pro
- Ensembl rs2049016492
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0548
- REVEL 0.05
- CADD 1.25
- PolyPhen-2 0.06
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available