A51S (p.Ala51Ser) variant of CETP (P11597)
A51S (p.Ala51Ser) 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 0.26 / 1. The record also includes population frequency data and structural context.
A51S (p.Ala51Ser) variant details
- p.Ala51Ser
- rs549487844
- NCI-TCGA Cosmic COSV9956
- cosmic curated COSV99569
- NCI-TCGA Cosmic COSV9957
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.15
- CADD 20.90
- PolyPhen-2 0.32
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available