G53S (p.Gly53Ser) variant of FBN2 (Fibrillin-2)
G53S (p.Gly53Ser) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G53S (p.Gly53Ser) variant details
- p.Gly53Ser
- rs146807421
- ClinGen CA324262
- ClinVar RCV000199714
- ClinVar RCV000555367
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.25
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.47
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-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)