K127T (p.Lys127Thr) variant of SPTBN2 (O15020)
K127T (p.Lys127Thr) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
K127T (p.Lys127Thr) variant details
- p.Lys127Thr
- ESP rs140092196
- ExAC rs140092196
- TOPMed rs140092196
- gnomAD rs140092196
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.35
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available