M67I (p.Met67Ile) variant of APOA5 (Apolipoprotein A-V)
M67I (p.Met67Ile) in APOA5 (Apolipoprotein A-V) 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 0.28 / 1. The record also includes population frequency data and structural context.
M67I (p.Met67Ile) variant details
- p.Met67Ile
- Ensembl rs1466701153
- NCI-TCGA Cosmic COSV5706
- cosmic curated COSV57062
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.18
- CADD 16.80
- PolyPhen-2 0.06
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available