P36H (p.Pro36His) variant of TMEM127 (Transmembrane protein 127)
P36H (p.Pro36His) in TMEM127 (Transmembrane protein 127) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
P36H (p.Pro36His) variant details
- p.Pro36His
- gnomAD 2-96265275-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.69
- CADD 29.40
- PolyPhen-2 0.96
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available