T6K (p.Thr6Lys) variant of ANGPTL4 (Angiopoietin-related protein 4)
T6K (p.Thr6Lys) in ANGPTL4 (Angiopoietin-related protein 4) is a missense change. Clinical records from ClinVar, EBI, 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 0.26 / 1. The record also includes population frequency data and structural context.
T6K (p.Thr6Lys) variant details
- p.Thr6Lys
- TOPMed rs1568213565
- gnomAD rs1568213565
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.07
- CADD 17.20
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available