A15V (p.Ala15Val) variant of SDHB (P21912)
A15V (p.Ala15Val) in SDHB (P21912) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- TOPMed rs796475064
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.27
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available