A51T (p.Ala51Thr) variant of CETP (P11597)
A51T (p.Ala51Thr) in CETP (P11597) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- rs549487844
- NCI-TCGA Cosmic COSV9956
- NCI-TCGA Cosmic COSV9957
- cosmic curated COSV99570
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.17
- CADD 22.00
- PolyPhen-2 0.26
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available