A16V (p.Ala16Val) variant of FGFR1 (P11362)
A16V (p.Ala16Val) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FGFR1-related disorder; Hypogonadotropic hypogonadism 2 with or without anosmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs200596591
- ClinGen CA4718949
- ClinVar RCV004529804
- ClinVar RCV006561547
- Uncertain significance
- FGFR1-related disorder; Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.40
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (FGFR1-related disorder; Hypogonadotropic hypogonadism 2 with or)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)