G67R (p.Gly67Arg) variant of TMEM43 (Transmembrane protein 43)
G67R (p.Gly67Arg) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G67R (p.Gly67Arg) variant details
- p.Gly67Arg
- gnomAD 3-14130858-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.52
- MetaLR 0.31
- MetaSVM -0.38
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available