S30S (p.Ser30Ser) variant of TMEM127 (Transmembrane protein 127)
S30S (p.Ser30Ser) in TMEM127 (Transmembrane protein 127) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- gnomAD 2-96265292-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 14.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available