A13T (p.Ala13Thr) variant of SDHD (O14521)
A13T (p.Ala13Thr) 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; Pheochromocytoma; Carney-Stratakis synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- rs940936212
- ClinGen CA382616718
- ClinVar RCV002533254
- Ensembl rs940936212
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carney-Stratakis synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- AlphaMissense 0.09
- MetaLR 0.75
- MetaSVM 0.12
- PolyPhen-2 0.11
- SIFT 0.14
- MutPred 0.30
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carne)
- 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)