p.Ala61 Thr62del variant of TMEM43 (Transmembrane protein 43)
p.Ala61 Thr62del in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala61 Thr62del variant details
- gnomAD 3-14130836-GACGGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 18.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available