T60R (p.Thr60Arg) variant of TMEM43 (Transmembrane protein 43)
T60R (p.Thr60Arg) in TMEM43 (Transmembrane protein 43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T60R (p.Thr60Arg) variant details
- p.Thr60Arg
- gnomAD 3-14130837-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.503
- CADD 29.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available