L4F (p.Leu4Phe) variant of SDHD (O14521)
L4F (p.Leu4Phe) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Cowden syndrome 3; Paragangliomas with sensorineural hearing l. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- rs1032016970
- ClinGen CA228550342
- NCI-TCGA Cosmic COSV5477
- cosmic curated COSV54778
- Uncertain significance
- Pheochromocytoma; Cowden syndrome 3; Paragangliomas with sensorineural hearing l
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.57
- AlphaMissense 0.07
- MetaLR 0.80
- MetaSVM 0.22
- CADD 9.18
- PolyPhen-2 0.88
- ClinVar: Uncertain significance (Pheochromocytoma; Cowden syndrome 3; Paragangliomas with sensori)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)