C44Y (p.Cys44Tyr) variant of SDHD (O14521)
C44Y (p.Cys44Tyr) 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; Paragangliomas with sensorineural hearing loss; Cowde. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
C44Y (p.Cys44Tyr) variant details
- p.Cys44Tyr
- rs1566692479
- ClinGen CA382617051
- ClinVar RCV002533453
- ClinVar RCV003999657
- Uncertain significance
- Carney-Stratakis syndrome; Paragangliomas with sensorineural hearing loss; Cowde
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- AlphaMissense 0.09
- MetaLR 0.71
- MetaSVM 0.14
- PolyPhen-2 0.00
- SIFT 0.22
- EVE 0.11
- ClinVar: Uncertain significance (Carney-Stratakis syndrome; Paragangliomas with sensorineural hea)
- 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)