V10L (p.Val10Leu) variant of SDHD (O14521)
V10L (p.Val10Leu) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Carney-Stratak. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
V10L (p.Val10Leu) variant details
- p.Val10Leu
- rs1555186671
- ClinGen CA382616689
- ClinVar RCV004508395
- ClinVar RCV006564833
- Conflicting interpretations
- Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Carney-Stratak
- 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: Conflicting classifications of pathogenicity (Pheochromocytoma; Paragangliomas with sensorineural hearing loss)
- EBI: Likely benign
- UniProt: Likely benign
- 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)