T26A (p.Thr26Ala) variant of FBN2 (Fibrillin-2)
T26A (p.Thr26Ala) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T26A (p.Thr26Ala) variant details
- p.Thr26Ala
- rs374922166
- ClinGen CA322091
- ClinVar RCV000726832
- ClinVar RCV001083543
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.14
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.72
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- 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)