T5A (p.Thr5Ala) variant of CETP (P11597)
T5A (p.Thr5Ala) in CETP (P11597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
T5A (p.Thr5Ala) variant details
- p.Thr5Ala
- gnomAD 16-56961992-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0413
- REVEL 0.01
- CADD 3.16
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available