R13S (p.Arg13Ser) variant of TMEM127 (Transmembrane protein 127)
R13S (p.Arg13Ser) in TMEM127 (Transmembrane protein 127) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R13S (p.Arg13Ser) variant details
- p.Arg13Ser
- gnomAD 2-96265345-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.31
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available