V46L (p.Val46Leu) variant of SDHD (O14521)
V46L (p.Val46Leu) 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; Carney-Stratakis syndrome; Paragangliom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
V46L (p.Val46Leu) variant details
- p.Val46Leu
- rs886047699
- ClinGen CA382617063
- ClinVar RCV002241862
- ClinVar RCV006287384
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Carney-Stratakis syndrome; Paragangliom
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- AlphaMissense 0.10
- MetaLR 0.65
- MetaSVM -0.29
- PolyPhen-2 0.00
- SIFT 0.09
- EVE 0.12
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Carney-Stratakis syndro)
- 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)