R25C (p.Arg25Cys) variant of SPTBN2 (O15020)
R25C (p.Arg25Cys) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
R25C (p.Arg25Cys) variant details
- p.Arg25Cys
- TOPMed rs1399781384
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.51
- CADD 32.00
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)