T41I (p.Thr41Ile) variant of SPTBN4 (Q9H254)
T41I (p.Thr41Ile) in SPTBN4 (Q9H254) is a missense change. 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.
T41I (p.Thr41Ile) variant details
- p.Thr41Ile
- ExAC rs763572029
- TOPMed rs763572029
- gnomAD rs763572029
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available