A51D (p.Ala51Asp) variant of CETP (P11597)
A51D (p.Ala51Asp) in CETP (P11597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A51D (p.Ala51Asp) variant details
- p.Ala51Asp
- gnomAD 16-56963043-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.16
- CADD 20.50
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available