A30G (p.Ala30Gly) variant of APOL1 (Apolipoprotein L1)
A30G (p.Ala30Gly) in APOL1 (Apolipoprotein L1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A30G (p.Ala30Gly) variant details
- p.Ala30Gly
- TOPMed rs1271868830
- gnomAD rs1271868830
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.03
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available