A23T (p.Ala23Thr) variant of FBN2 (Fibrillin-2)
A23T (p.Ala23Thr) 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 0.41 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- rs893243344
- ClinGen CA127059259
- ClinVar RCV003441605
- TOPMed rs893243344
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.20
- CADD 23.80
- PolyPhen-2 0.04
- SIFT 0.03
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available