A13S (p.Ala13Ser) variant of SDHD (O14521)
A13S (p.Ala13Ser) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Carney-Stratakis syndrome; Paragangliomas with sensorineural h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- rs940936212
- ClinGen CA228550401
- ClinVar RCV002233051
- ClinVar RCV002358819
- Uncertain significance
- Pheochromocytoma; Carney-Stratakis syndrome; Paragangliomas with sensorineural h
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.45
- AlphaMissense 0.09
- MetaLR 0.75
- MetaSVM 0.12
- CADD 13.80
- PolyPhen-2 0.11
- ClinVar: Uncertain significance (Pheochromocytoma; Carney-Stratakis syndrome; Paragangliomas with)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)