C101W (p.Cys101Trp) variant of FGFR1 (P11362)
C101W (p.Cys101Trp) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism 2 with or without a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
C101W (p.Cys101Trp) variant details
- p.Cys101Trp
- rs142638017
- ClinGen CA370736241
- ClinVar RCV001760681
- ClinVar RCV005432787
- Uncertain significance
- Hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism 2 with or without a
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.83
- CADD 21.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism 2 w)
- EBI: Likely benign (in HH2)
- UniProt: Likely benign (in HH2)
- Population evidence available
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)