M67V (p.Met67Val) variant of APOA5 (Apolipoprotein A-V)
M67V (p.Met67Val) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
M67V (p.Met67Val) variant details
- p.Met67Val
- ESP rs372084940
- ExAC rs372084940
- TOPMed rs372084940
- gnomAD rs372084940
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0692
- REVEL 0.04
- CADD 6.59
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available