A29T (p.Ala29Thr) variant of SDHD (O14521)
A29T (p.Ala29Thr) 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; Cowden syndrome 3; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- rs776930864
- ClinGen CA382616961
- ClinVar RCV002715787
- ClinVar RCV003167664
- Uncertain significance
- Carney-Stratakis syndrome; Cowden syndrome 3; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.48
- CADD 23.30
- ClinVar: Uncertain significance (Carney-Stratakis syndrome; Cowden syndrome 3; Pheochromocytoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)