L4I (p.Leu4Ile) variant of SDHD (O14521)
L4I (p.Leu4Ile) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Pheochromocytoma; Cowden syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
L4I (p.Leu4Ile) variant details
- p.Leu4Ile
- rs1032016970
- ClinGen CA382616630
- ClinVar RCV003792134
- ClinVar RCV005000036
- Uncertain significance
- not provided; Pheochromocytoma; Cowden syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- AlphaMissense 0.07
- MetaLR 0.80
- MetaSVM 0.22
- PolyPhen-2 0.88
- SIFT 0.01
- MutPred 0.41
- ClinVar: Uncertain significance (not provided; Pheochromocytoma; Cowden syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)