A25S (p.Ala25Ser) variant of SETBP1 (SET-binding protein)
A25S (p.Ala25Ser) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- gnomAD 18-44701419-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- MetaLR 0.12
- MetaSVM -1.02
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available