E79K (p.Glu79Lys) variant of ABCA3 (Q99758)
E79K (p.Glu79Lys) in ABCA3 (Q99758) 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 0.60 / 1. The record also includes population frequency data and structural context.
E79K (p.Glu79Lys) variant details
- p.Glu79Lys
- rs1185200028
- NCI-TCGA Cosmic COSV5705
- cosmic curated COSV57056
- TOPMed rs1185200028
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.50
- CADD 23.60
- PolyPhen-2 0.42
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available