G25S (p.Gly25Ser) variant of FBN2 (Fibrillin-2)
G25S (p.Gly25Ser) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G25S (p.Gly25Ser) variant details
- p.Gly25Ser
- rs763408652
- ClinGen CA3396235
- ClinVar RCV000690148
- ClinVar RCV002477551
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.27
- CADD 22.50
- PolyPhen-2 0.34
- SIFT 0.31
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)