P27Q (p.Pro27Gln) variant of TMEM127 (Transmembrane protein 127)
P27Q (p.Pro27Gln) in TMEM127 (Transmembrane protein 127) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P27Q (p.Pro27Gln) variant details
- p.Pro27Gln
- gnomAD 2-96265302-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.43
- CADD 24.90
- PolyPhen-2 0.62
- SIFT 0.29
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available