A23E (p.Ala23Glu) variant of FBN2 (Fibrillin-2)
A23E (p.Ala23Glu) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A23E (p.Ala23Glu) variant details
- p.Ala23Glu
- rs199560824
- ClinGen CA360763165
- ClinVar RCV001343389
- ESP rs199560824
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.21
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- 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)