K36R (p.Lys36Arg) variant of FBN2 (Fibrillin-2)
K36R (p.Lys36Arg) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K36R (p.Lys36Arg) variant details
- p.Lys36Arg
- rs1431387329
- ClinGen CA360762840
- cosmic curated COSV52512
- ClinVar RCV002424171
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.21
- CADD 21.90
- PolyPhen-2 0.07
- SIFT 0.56
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)