V50M (p.Val50Met) variant of APOC3 (Apolipoprotein C-III)
V50M (p.Val50Met) in APOC3 (Apolipoprotein C-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Apolipoprotein c-III deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V50M (p.Val50Met) variant details
- p.Val50Met
- rs201803883
- ClinGen CA6289663
- NCI-TCGA Cosmic COSV5263
- cosmic curated COSV52635
- Uncertain significance
- not provided; Apolipoprotein c-III deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.28
- CADD 6.85
- PolyPhen-2 0.28
- SIFT 0.17
- ClinVar: Uncertain significance (not provided; Apolipoprotein c-III deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.011)
- Structural context available