P42L (p.Pro42Leu) variant of FBN2 (Fibrillin-2)
P42L (p.Pro42Leu) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- rs773011327
- ClinGen CA324396
- ClinVar RCV000199848
- ClinVar RCV000541110
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.27
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.47
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)