R22S (p.Arg22Ser) variant of FGFR1 (P11362)
R22S (p.Arg22Ser) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hypogonadotropic hypogonadism; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R22S (p.Arg22Ser) variant details
- p.Arg22Ser
- rs17175750
- UniProt VAR 019290
- 1000Genomes rs17175750
- ESP rs17175750
- Conflicting interpretations
- not specified; Hypogonadotropic hypogonadism; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.53
- CADD 22.40
- PolyPhen-2 0.99
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hypogonadotropic hypogonadism; not provided)
- EBI: Likely pathogenic (in dbSNP:rs17175750)
- UniProt: Likely pathogenic (in dbSNP:rs17175750)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)
- Cited in: Osteoglophonic Dysplasia. (PMID 38648328)