E31Q (p.Glu31Gln) variant of TMEM43 (Transmembrane protein 43)
E31Q (p.Glu31Gln) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E31Q (p.Glu31Gln) variant details
- p.Glu31Gln
- gnomAD 3-14129490-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.05
- CADD 21.80
- PolyPhen-2 0.06
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available