P24L (p.Pro24Leu) variant of TMEM127 (Transmembrane protein 127)
P24L (p.Pro24Leu) in TMEM127 (Transmembrane protein 127) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- gnomAD 2-96265311-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.47
- AlphaMissense 0.39
- MetaLR 0.30
- MetaSVM -0.81
- CADD 25.60
- PolyPhen-2 0.86
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available