S40I (p.Ser40Ile) variant of APOL1 (Apolipoprotein L1)
S40I (p.Ser40Ile) in APOL1 (Apolipoprotein L1) is a missense change. Clinical records from ClinVar, EBI, 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 0.14 / 1. The record also includes population frequency data and structural context.
S40I (p.Ser40Ile) variant details
- p.Ser40Ile
- rs1412411332
- ClinGen CA411400015
- ClinVar RCV004417850
- gnomAD rs1412411332
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.14
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available