A7R (p.Ala7Arg) variant of TMEM127 (Transmembrane protein 127)
A7R (p.Ala7Arg) in TMEM127 (Transmembrane protein 127) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A7R (p.Ala7Arg) variant details
- p.Ala7Arg
- rs1684396835
- gnomAD 2-96265361-TGC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 32.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available