A34S (p.Ala34Ser) variant of TMEM127 (Transmembrane protein 127)
A34S (p.Ala34Ser) 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.
A34S (p.Ala34Ser) variant details
- p.Ala34Ser
- gnomAD 2-96265282-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.59
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available