K25S (p.Lys25Ser) variant of TMEM127 (Transmembrane protein 127)
K25S (p.Lys25Ser) in TMEM127 (Transmembrane protein 127) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
K25S (p.Lys25Ser) variant details
- p.Lys25Ser
- rs1223474344
- gnomAD 2-96265307-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 29.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available