V3L (p.Val3Leu) variant of SDHD (O14521)
V3L (p.Val3Leu) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Paragangliomas with sensorineural hearing loss; Carney-Stratakis syndrome; Cowde. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
V3L (p.Val3Leu) variant details
- p.Val3Leu
- rs1555186656
- ClinGen CA382616620
- ClinVar RCV001921465
- Ensembl rs1555186656
- Uncertain significance
- Paragangliomas with sensorineural hearing loss; Carney-Stratakis syndrome; Cowde
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.10
- MetaLR 0.68
- MetaSVM -0.15
- PolyPhen-2 0.00
- SIFT 0.23
- MutPred 0.26
- ClinVar: Uncertain significance (Paragangliomas with sensorineural hearing loss; Carney-Stratakis)
- 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)