V25L (p.Val25Leu) variant of SDHD (O14521)
V25L (p.Val25Leu) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
V25L (p.Val25Leu) variant details
- p.Val25Leu
- rs878854597
- ClinGen CA10582868
- ClinVar RCV002229353
- ClinVar RCV002378990
- Uncertain significance
- Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural h
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.12
- MetaLR 0.64
- MetaSVM -0.09
- PolyPhen-2 0.00
- SIFT 0.42
- EVE 0.06
- ClinVar: Uncertain significance (Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with)
- 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)