V9I (p.Val9Ile) variant of SDHC (Q99643)
V9I (p.Val9Ile) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hereditary cancer-predisposing syndrome; Hereditary pheochromocyt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V9I (p.Val9Ile) variant details
- p.Val9Ile
- rs774768866
- ClinGen CA047404
- cosmic curated COSV61368
- ClinVar RCV000234613
- Uncertain significance
- not specified; Hereditary cancer-predisposing syndrome; Hereditary pheochromocyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.17
- AlphaMissense 0.09
- MetaLR 0.53
- MetaSVM -0.40
- CADD 15.30
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (not specified; Hereditary cancer-predisposing syndrome; Heredita)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)