S10C (p.Ser10Cys) variant of SETBP1 (SET-binding protein)
S10C (p.Ser10Cys) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
S10C (p.Ser10Cys) variant details
- p.Ser10Cys
- gnomAD 18-44701375-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Literature evidence available