A2T (p.Ala2Thr) variant of SDHD (O14521)
A2T (p.Ala2Thr) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Paragangliomas with sensorineural hearing loss; Cowden syndrome 3; Carney-Strata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs1401420432
- ClinGen CA382616609
- ClinVar RCV002534673
- gnomAD rs1401420432
- Uncertain significance
- Paragangliomas with sensorineural hearing loss; Cowden syndrome 3; Carney-Strata
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.55
- CADD 28.70
- PolyPhen-2 0.36
- SIFT 0.01
- ClinVar: Uncertain significance (Paragangliomas with sensorineural hearing loss; Cowden syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)