p.Leu9 Gly11del variant of TMEM127 (Transmembrane protein 127)
p.Leu9 Gly11del in TMEM127 (Transmembrane protein 127) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu9 Gly11del variant details
- rs1684396239
- gnomAD 2-96265349-GCCGGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 22.40
- Most common in the East Asian population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available