E113K (p.Glu113Lys) variant of ABCA3 (Q99758)
E113K (p.Glu113Lys) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
E113K (p.Glu113Lys) variant details
- p.Glu113Lys
- TOPMed rs1445383505
- gnomAD rs1445383505
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.68
- CADD 25.20
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available