V69V (p.Val69Val) variant of SETBP1 (SET-binding protein)
V69V (p.Val69Val) in SETBP1 (SET-binding protein) is a synonymous 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.
V69V (p.Val69Val) variant details
- p.Val69Val
- rs1004328008
- gnomAD 18-44701553-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 10.50
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available