V17V (p.Val17Val) variant of TMEM43 (Transmembrane protein 43)
V17V (p.Val17Val) in TMEM43 (Transmembrane protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
V17V (p.Val17Val) variant details
- p.Val17Val
- rs397517383
- gnomAD 3-14129450-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0839
- CADD 0.46
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available