P21R (p.Pro21Arg) variant of SETBP1 (SET-binding protein)
P21R (p.Pro21Arg) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P21R (p.Pro21Arg) variant details
- p.Pro21Arg
- gnomAD 18-44701408-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- MetaLR 0.18
- MetaSVM -0.91
- CADD 22.40
- PolyPhen-2 0.13
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available