G35R (p.Gly35Arg) variant of TMEM43 (Transmembrane protein 43)
G35R (p.Gly35Arg) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G35R (p.Gly35Arg) variant details
- p.Gly35Arg
- gnomAD 3-14129502-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.67
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available