A515V (p.Ala515Val) variant of FGFR2 (P21802)
A515V (p.Ala515Val) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Levy-Hollister syndrome. The record also includes structural context.
A515V (p.Ala515Val) variant details
- p.Ala515Val
- rs1847510893
- ClinGen CA378322753
- ClinVar RCV001250712
- Ensembl rs1847510893
- Pathogenic
- Levy-Hollister syndrome
- Missense
- ClinVar: Pathogenic (Levy-Hollister syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available