S30R (p.Ser30Arg) variant of TMEM127 (Transmembrane protein 127)
S30R (p.Ser30Arg) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from ClinVar, EBI, 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 0.54 / 1. The record also includes population frequency data and structural context.
S30R (p.Ser30Arg) variant details
- p.Ser30Arg
- TOPMed rs763476625
- gnomAD rs763476625
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.63
- CADD 25.20
- PolyPhen-2 0.71
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Hereditary cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available