T51R (p.Thr51Arg) variant of FBN2 (Fibrillin-2)
T51R (p.Thr51Arg) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T51R (p.Thr51Arg) variant details
- p.Thr51Arg
- rs1060503509
- ClinGen CA16611911
- ClinVar RCV000458920
- ClinVar RCV004546500
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.07
- CADD 4.91
- PolyPhen-2 0.01
- SIFT 0.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)