G34D (p.Gly34Asp) variant of TMEM43 (Transmembrane protein 43)
G34D (p.Gly34Asp) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- gnomAD 3-14129500-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.25
- CADD 24.00
- PolyPhen-2 0.73
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available