E13K (p.Glu13Lys) variant of TMEM43 (Transmembrane protein 43)
E13K (p.Glu13Lys) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- ExAC rs748116470
- gnomAD rs748116470
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.06
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available