M55T (p.Met55Thr) variant of SETBP1 (SET-binding protein)
M55T (p.Met55Thr) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
M55T (p.Met55Thr) variant details
- p.Met55Thr
- gnomAD 18-44701510-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- MetaLR 0.21
- MetaSVM -0.79
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available