A674V (p.Ala674Val) variant of FGFR2 (P21802)
A674V (p.Ala674Val) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Levy-Hollister syndrome. The record also includes structural context.
A674V (p.Ala674Val) variant details
- p.Ala674Val
- rs1554907337
- ClinGen CA378313216
- ClinVar RCV000659649
- Ensembl rs1554907337
- Likely pathogenic
- Levy-Hollister syndrome
- Missense
- ClinVar: Likely pathogenic (Levy-Hollister syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available