D37V (p.Asp37Val) variant of SDHD (O14521)
D37V (p.Asp37Val) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.54 / 1. The record also includes published literature and structural context.
D37V (p.Asp37Val) variant details
- p.Asp37Val
- rs1865654258
- ClinGen CA382617013
- ClinVar RCV002240993
- ClinVar RCV005480608
- Conflicting interpretations
- Paragangliomas with sensorineural hearing loss; Carney-Stratakis syndrome; Cowde
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- AlphaMissense 0.14
- MetaLR 0.73
- MetaSVM 0.43
- PolyPhen-2 0.48
- SIFT 0.00
- EVE 0.21
- ClinVar: Conflicting classifications of pathogenicity (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)