A23V (p.Ala23Val) variant of FBN2 (Fibrillin-2)
A23V (p.Ala23Val) 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 and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- cosmic curated COSV10728
- ESP rs199560824
- ExAC rs199560824
- TOPMed rs199560824
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.17
- CADD 20.50
- PolyPhen-2 0.03
- SIFT 0.15
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available