S17N (p.Ser17Asn) variant of TMEM127 (Transmembrane protein 127)
S17N (p.Ser17Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S17N (p.Ser17Asn) variant details
- p.Ser17Asn
- gnomAD rs1223613323
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.21
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3e-05)
- Structural context available