S33A (p.Ser33Ala) variant of TMEM43 (Transmembrane protein 43)
S33A (p.Ser33Ala) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S33A (p.Ser33Ala) variant details
- p.Ser33Ala
- gnomAD 3-14129496-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.05
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available