T4K (p.Thr4Lys) variant of SPTBN2 (O15020)
T4K (p.Thr4Lys) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
T4K (p.Thr4Lys) variant details
- p.Thr4Lys
- rs749463565
- ClinGen CA224101734
- ClinVar RCV003553610
- ClinVar RCV004731545
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.23
- CADD 22.90
- PolyPhen-2 0.25
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available