T41A (p.Thr41Ala) variant of SPTBN4 (Q9H254)
T41A (p.Thr41Ala) in SPTBN4 (Q9H254) 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 0.28 / 1. The record also includes population frequency data and structural context.
T41A (p.Thr41Ala) variant details
- p.Thr41Ala
- 1000Genomes rs202134587
- TOPMed rs202134587
- gnomAD rs202134587
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.01)
- Structural context available