I40T (p.Ile40Thr) variant of SDHD (O14521)
I40T (p.Ile40Thr) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
I40T (p.Ile40Thr) variant details
- p.Ile40Thr
- rs1592778916
- ClinGen CA382617025
- ClinVar RCV002535923
- ClinVar RCV004027515
- Conflicting interpretations
- Carney-Stratakis syndrome; Paragangliomas with sensorineural hearing loss; Cowde
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.56
- CADD 2.70
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Conflicting classifications of pathogenicity (Carney-Stratakis syndrome; Paragangliomas with sensorineural hea)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6e-05)
- 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)