A25V (p.Ala25Val) variant of SDHB (P21912)
A25V (p.Ala25Val) in SDHB (P21912) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- NCI-TCGA Cosmic COSV6496
- Uncertain significance
- Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.38
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocyto)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available