L4V (p.Leu4Val) variant of SDHD (O14521)
L4V (p.Leu4Val) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- rs1032016970
- ClinGen CA382616632
- ClinVar RCV002430843
- ClinVar RCV005227760
- Conflicting interpretations
- Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- AlphaMissense 0.07
- MetaLR 0.80
- MetaSVM 0.22
- PolyPhen-2 0.88
- SIFT 0.01
- MutPred 0.41
- ClinVar: Conflicting classifications of pathogenicity (Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome)
- 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)