R627S (p.Arg627Ser) variant of FGFR1 (P11362)
R627S (p.Arg627Ser) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hartsfield-Bixler-Demyer syndrome; Cerebellar vermis hypoplasia; Congenital cere. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
R627S (p.Arg627Ser) variant details
- p.Arg627Ser
- rs1563436265
- ClinGen CA370730519
- ClinVar RCV000779636
- ClinVar RCV001257986
- Pathogenic/Likely pathogenic
- Hartsfield-Bixler-Demyer syndrome; Cerebellar vermis hypoplasia; Congenital cere
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic/Likely pathogenic (Hartsfield-Bixler-Demyer syndrome; Cerebellar vermis hypoplasia;)
- EBI: Pathogenic (in HRTFDS)
- UniProt: Pathogenic (in HRTFDS)
- Structural context available
- Cited in: Holoprosencephaly Overview. (PMID 20301702)
- Cited in: FGFR1-Related Hartsfield Syndrome. (PMID 26937548)