A68V (p.Ala68Val) variant of FBN2 (Fibrillin-2)
A68V (p.Ala68Val) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- rs62390671
- ClinGen CA285509
- ClinVar RCV000079963
- ClinVar RCV000383512
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.17
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.23
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)