Y5F (p.Tyr5Phe) variant of TMEM43 (Transmembrane protein 43)
Y5F (p.Tyr5Phe) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Y5F (p.Tyr5Phe) variant details
- p.Tyr5Phe
- gnomAD 3-14129413-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.05
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available