G485V (p.Gly485Val) variant of FGFR1 (P11362)
G485V (p.Gly485Val) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hartsfield-Bixler-Demyer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G485V (p.Gly485Val) variant details
- p.Gly485Val
- rs876661332
- ClinGen CA10581216
- cosmic curated COSV58346
- ClinVar RCV000223739
- Likely pathogenic
- Hartsfield-Bixler-Demyer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Likely pathogenic (Hartsfield-Bixler-Demyer syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Holoprosencephaly Overview. (PMID 20301702)
- Cited in: FGFR1-Related Hartsfield Syndrome. (PMID 26937548)