A23S (p.Ala23Ser) variant of FBN2 (Fibrillin-2)
A23S (p.Ala23Ser) 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 0.38 / 1. The record also includes population frequency data and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- TOPMed rs893243344
- gnomAD rs893243344
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.15
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.04
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available