N43S (p.Asn43Ser) variant of SDHC (Q99643)
N43S (p.Asn43Ser) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
N43S (p.Asn43Ser) variant details
- p.Asn43Ser
- rs747349777
- ClinGen CA045754
- ClinVar RCV000233052
- ClinVar RCV000763756
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.22
- AlphaMissense 0.09
- MetaLR 0.55
- MetaSVM -0.60
- CADD 11.90
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)