E1364K (p.Glu1364Lys) variant of ABCA3 (Q99758)
E1364K (p.Glu1364Lys) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Interstitial lung disease due to ABCA3 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
E1364K (p.Glu1364Lys) variant details
- p.Glu1364Lys
- rs1413175771
- ClinGen CA394310344
- cosmic curated COSV10462
- ClinVar RCV004579628
- Pathogenic/Likely pathogenic
- Interstitial lung disease due to ABCA3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.83
- MetaLR 0.89
- MetaSVM 0.98
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Interstitial lung disease due to ABCA3 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available