P38S (p.Pro38Ser) variant of FBN2 (Fibrillin-2)
P38S (p.Pro38Ser) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- rs972857604
- ClinGen CA127059067
- ClinVar RCV002585253
- TOPMed rs972857604
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.21
- CADD 18.00
- PolyPhen-2 0.12
- SIFT 0.65
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)