L7Q (p.Leu7Gln) variant of SDHD (O14521)
L7Q (p.Leu7Gln) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Cowden syndrome 3; Carney-Stratakis syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
L7Q (p.Leu7Gln) variant details
- p.Leu7Gln
- rs1865619523
- ClinGen CA382616671
- ClinVar RCV002242207
- ClinVar RCV004951561
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Cowden syndrome 3; Carney-Stratakis syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 0.13
- MetaLR 0.91
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.66
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Cowden syndrome 3; Carn)
- 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)