A18V (p.Ala18Val) variant of FBN1 (Fibrillin-1)
A18V (p.Ala18Val) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes variant effect predictions and population frequency data.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- rs770295085
- ClinGen CA270085538
- ClinVar RCV003230879
- ExAC rs770295085
- Uncertain significance
- not specified
- Missense
- REVEL 0.14
- MetaLR 0.26
- MetaSVM -0.85
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)