T109A (p.Thr109Ala) variant of ABCC6 (O95255)
T109A (p.Thr109Ala) 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 0.13 / 1. The record also includes population frequency data and structural context.
T109A (p.Thr109Ala) variant details
- p.Thr109Ala
- gnomAD rs1033531337
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.05
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.55
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available