P49S (p.Pro49Ser) variant of SETBP1 (SET-binding protein)
P49S (p.Pro49Ser) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P49S (p.Pro49Ser) variant details
- p.Pro49Ser
- gnomAD 18-44701491-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- MetaLR 0.11
- MetaSVM -1.06
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available