S6T (p.Ser6Thr) variant of SPTBN2 (O15020)
S6T (p.Ser6Thr) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
S6T (p.Ser6Thr) variant details
- p.Ser6Thr
- TOPMed rs1942386777
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.25
- CADD 23.20
- PolyPhen-2 0.55
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)