R67P (p.Arg67Pro) variant of SETBP1 (SET-binding protein)
R67P (p.Arg67Pro) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R67P (p.Arg67Pro) variant details
- p.Arg67Pro
- gnomAD 18-44701546-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- MetaLR 0.41
- MetaSVM 0.01
- CADD 25.50
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available