A23G (p.Ala23Gly) variant of FBN2 (Fibrillin-2)
A23G (p.Ala23Gly) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A23G (p.Ala23Gly) variant details
- p.Ala23Gly
- rs199560824
- ClinGen CA323989
- ClinVar RCV000294775
- ClinVar RCV001721270
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.14
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)