P24S (p.Pro24Ser) variant of TMEM127 (Transmembrane protein 127)
P24S (p.Pro24Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P24S (p.Pro24Ser) variant details
- p.Pro24Ser
- Ensembl rs2104308180
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.47
- CADD 24.80
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available