A38V (p.Ala38Val) variant of TMEM127 (Transmembrane protein 127)
A38V (p.Ala38Val) in TMEM127 (Transmembrane protein 127) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- gnomAD 2-96265269-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.40
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available