F47del (p.Phe47del) variant of TMEM43 (Transmembrane protein 43)
F47del (p.Phe47del) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
F47del (p.Phe47del) variant details
- rs756597745
- gnomAD 3-14129536-CCTT-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.718
- CADD 19.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available