G610S (p.Gly610Ser) variant of FGFR1 (P11362)
G610S (p.Gly610Ser) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome; Ence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G610S (p.Gly610Ser) variant details
- p.Gly610Ser
- Ensembl rs2150582756
- Conflicting interpretations
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome; Ence
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.97
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- UniProt: Conflicting interpretations
- Population evidence available
- Structural context available