V4F (p.Val4Phe) variant of SDHA (P31040)
V4F (p.Val4Phe) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1GG; Pheochromocytoma/paraganglioma syndrome 5; Mitochond. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V4F (p.Val4Phe) variant details
- p.Val4Phe
- rs778069799
- ClinGen CA359007258
- cosmic curated COSV53772
- ClinVar RCV001017300
- Uncertain significance
- Dilated cardiomyopathy 1GG; Pheochromocytoma/paraganglioma syndrome 5; Mitochond
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.10
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1GG; Pheochromocytoma/paraganglioma syndr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 6.4e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)