S33W (p.Ser33Trp) variant of TMEM43 (Transmembrane protein 43)
S33W (p.Ser33Trp) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S33W (p.Ser33Trp) variant details
- p.Ser33Trp
- gnomAD 3-14129497-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.05
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available