P14L (p.Pro14Leu) variant of SDHB (P21912)
P14L (p.Pro14Leu) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- rs764089231
- ClinGen CA089608
- ClinVar RCV000633975
- ClinVar RCV002331129
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 4; Pheochromocytoma; Gastrointestinal st
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.32
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 4; Pheochromocytoma; Gas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DAI population (allele frequency 0.056)
- 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)