E29K (p.Glu29Lys) variant of APOL1 (Apolipoprotein L1)
E29K (p.Glu29Lys) in APOL1 (Apolipoprotein L1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- NCI-TCGA Cosmic COSV5986
- cosmic curated COSV59869
- TOPMed rs2015907989
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.02
- CADD 8.72
- PolyPhen-2 0.00
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available