Q35K (p.Gln35Lys) variant of APOL1 (Apolipoprotein L1)
Q35K (p.Gln35Lys) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
Q35K (p.Gln35Lys) variant details
- p.Gln35Lys
- rs746312873
- ClinGen CA411399869
- ClinVar RCV001900484
- ExAC rs746312873
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0786
- REVEL 0.04
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available