L9P (p.Leu9Pro) variant of TMEM127 (Transmembrane protein 127)
L9P (p.Leu9Pro) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- Ensembl rs2104308474
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.50
- AlphaMissense 0.09
- MetaLR 0.67
- MetaSVM 0.25
- CADD 23.00
- PolyPhen-2 0.43
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Hereditary cancer)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available