Q45L (p.Gln45Leu) variant of FBN2 (Fibrillin-2)
Q45L (p.Gln45Leu) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
Q45L (p.Gln45Leu) variant details
- p.Gln45Leu
- rs774411616
- ClinGen CA360762605
- ClinVar RCV002049955
- 1000Genomes rs774411616
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.11
- MetaLR 0.26
- MetaSVM -0.86
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.31
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: Congenital Contractural Arachnodactyly. (PMID 20301560)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)