Q31H (p.Gln31His) variant of FBN2 (Fibrillin-2)
Q31H (p.Gln31His) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q31H (p.Gln31His) variant details
- p.Gln31His
- rs371491169
- ClinGen CA360762942
- ClinVar RCV000684895
- 1000Genomes rs371491169
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.22
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.08
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)