R40S (p.Arg40Ser) variant of APOA5 (Apolipoprotein A-V)
R40S (p.Arg40Ser) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R40S (p.Arg40Ser) variant details
- p.Arg40Ser
- TOPMed rs1941014690
- gnomAD rs1941014690
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.14
- CADD 10.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available