A68S (p.Ala68Ser) variant of FBN2 (Fibrillin-2)
A68S (p.Ala68Ser) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A68S (p.Ala68Ser) variant details
- p.Ala68Ser
- rs767317022
- ClinGen CA320907
- ClinVar RCV000196494
- ClinVar RCV001853141
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.11
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.56
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)