S3N (p.Ser3Asn) variant of FGFR1 (P11362)
S3N (p.Ser3Asn) 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 2 with or without anosmia; Pfeiffer syndrome; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S3N (p.Ser3Asn) variant details
- p.Ser3Asn
- rs751651299
- ClinGen CA4718958
- ClinVar RCV002245098
- ClinVar RCV002488624
- Uncertain significance
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.22
- CADD 22.00
- PolyPhen-2 0.03
- SIFT 0.10
- ClinVar: Uncertain significance (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Encephalocraniocutaneous Lipomatosis. (PMID 35099867)
- Cited in: Holoprosencephaly Overview. (PMID 20301702)