T8R (p.Thr8Arg) variant of SPTBN2 (O15020)
T8R (p.Thr8Arg) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
T8R (p.Thr8Arg) variant details
- p.Thr8Arg
- gnomAD rs1235974980
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.21
- CADD 25.30
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)