P30L (p.Pro30Leu) variant of FBN2 (Fibrillin-2)
P30L (p.Pro30Leu) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- rs748040483
- ClinGen CA3396231
- ClinVar RCV002614537
- ExAC rs748040483
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.18
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)