A22S (p.Ala22Ser) variant of TMEM127 (Transmembrane protein 127)
A22S (p.Ala22Ser) in TMEM127 (Transmembrane protein 127) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- gnomAD 2-96265318-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.21
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available