P34L (p.Pro34Leu) variant of FBN2 (Fibrillin-2)
P34L (p.Pro34Leu) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs368006487
- ClinGen CA3396225
- ClinVar RCV002276444
- ClinVar RCV006629344
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.21
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.18
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)