G53D (p.Gly53Asp) variant of FBN2 (Fibrillin-2)
G53D (p.Gly53Asp) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G53D (p.Gly53Asp) variant details
- p.Gly53Asp
- rs375093230
- ClinGen CA206333
- ClinVar RCV000193087
- ClinVar RCV001852556
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.73
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.13
- EBI: Benign
- UniProt: 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)