P18T (p.Pro18Thr) variant of TMEM127 (Transmembrane protein 127)
P18T (p.Pro18Thr) in TMEM127 (Transmembrane protein 127) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P18T (p.Pro18Thr) variant details
- p.Pro18Thr
- gnomAD 2-96265330-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.24
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available