L35Q (p.Leu35Gln) variant of TMEM127 (Transmembrane protein 127)
L35Q (p.Leu35Gln) in TMEM127 (Transmembrane protein 127) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L35Q (p.Leu35Gln) variant details
- p.Leu35Gln
- gnomAD 2-96265278-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.72
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available