F13L (p.Phe13Leu) variant of FBN2 (Fibrillin-2)
F13L (p.Phe13Leu) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
F13L (p.Phe13Leu) variant details
- p.Phe13Leu
- rs957639025
- ClinGen CA127059276
- ClinVar RCV001155267
- TOPMed rs957639025
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.15
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)