V47G (p.Val47Gly) variant of CETP (P11597)
V47G (p.Val47Gly) in CETP (P11597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V47G (p.Val47Gly) variant details
- p.Val47Gly
- gnomAD 16-56963031-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.18
- CADD 23.20
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available