Q45P (p.Gln45Pro) variant of FBN2 (Fibrillin-2)
Q45P (p.Gln45Pro) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q45P (p.Gln45Pro) variant details
- p.Gln45Pro
- rs774411616
- ClinGen CA3396216
- ClinVar RCV003872917
- 1000Genomes rs774411616
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.17
- AlphaMissense 0.11
- MetaLR 0.26
- MetaSVM -0.86
- CADD 20.70
- PolyPhen-2 0.00
- EBI: Benign
- UniProt: Benign
- 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)