T8A (p.Thr8Ala) variant of SPTBN2 (O15020)
T8A (p.Thr8Ala) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
T8A (p.Thr8Ala) variant details
- p.Thr8Ala
- ExAC rs773027732
- TOPMed rs773027732
- gnomAD rs773027732
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.17
- CADD 21.60
- PolyPhen-2 0.06
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00011)