E136K (p.Glu136Lys) variant of ABCA3 (Q99758)
E136K (p.Glu136Lys) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E136K (p.Glu136Lys) variant details
- p.Glu136Lys
- cosmic curated COSV10511
- ExAC rs779362355
- gnomAD rs779362355
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.58
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available