A21V (p.Ala21Val) variant of SDHB (P21912)
A21V (p.Ala21Val) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs2078163173
- ClinGen CA338230633
- ClinVar RCV001929669
- ClinVar RCV003225206
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.37
- AlphaMissense 0.07
- MetaLR 0.85
- MetaSVM 0.55
- CADD 19.90
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Pheochrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-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)