L21F (p.Leu21Phe) variant of FBN2 (Fibrillin-2)
L21F (p.Leu21Phe) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as 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.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- rs201321678
- ClinGen CA3396239
- ClinVar RCV001230553
- 1000Genomes rs201321678
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.17
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00015)
- 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)