V10I (p.Val10Ile) variant of SDHD (O14521)
V10I (p.Val10Ile) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carney-Stratakis synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
V10I (p.Val10Ile) variant details
- p.Val10Ile
- rs1555186671
- ClinGen CA382616687
- ClinVar RCV002438373
- ClinVar RCV002526126
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carney-Stratakis synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.09
- MetaLR 0.62
- MetaSVM -0.20
- PolyPhen-2 0.01
- SIFT 0.05
- MutPred 0.34
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)