A45V (p.Ala45Val) variant of CETP (P11597)
A45V (p.Ala45Val) 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 0.19 / 1. The record also includes population frequency data and structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- rs200956328
- NCI-TCGA Cosmic COSV9956
- cosmic curated COSV99569
- ExAC rs200956328
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.06
- CADD 19.90
- PolyPhen-2 0.02
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available