A23P (p.Ala23Pro) variant of FBN2 (Fibrillin-2)
A23P (p.Ala23Pro) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A23P (p.Ala23Pro) variant details
- p.Ala23Pro
- rs893243344
- ClinGen CA127059254
- ClinVar RCV000819716
- TOPMed rs893243344
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.43
- CADD 24.00
- PolyPhen-2 0.10
- SIFT 0.02
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-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)