T340A (p.Thr340Ala) variant of FGFR1 (P11362)
T340A (p.Thr340Ala) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypogonadotropic hypogonadism 2 with or without anosmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T340A (p.Thr340Ala) variant details
- p.Thr340Ala
- rs2150755088
- ClinGen CA370734203
- ClinVar RCV003234696
- Ensembl rs2150755088
- Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.93
- CADD 24.60
- PolyPhen-2 0.51
- SIFT 0.01
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)