A2V (p.Ala2Val) variant of SDHB (P21912)
A2V (p.Ala2Val) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma/paraganglioma syndrome 4; Pheochromocytoma; Gastrointestinal st. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs199948437
- ClinGen CA089676
- NCI-TCGA Cosmic COSV6496
- ClinVar RCV000633973
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 4; Pheochromocytoma; Gastrointestinal st
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.62
- CADD 26.50
- PolyPhen-2 0.94
- SIFT 0.05
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 4; Pheochromocytoma; Gas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)