L7R (p.Leu7Arg) variant of FGFR1 (P11362)
L7R (p.Leu7Arg) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L7R (p.Leu7Arg) variant details
- p.Leu7Arg
- rs532741632
- ClinGen CA4718957
- ClinVar RCV001903731
- ClinVar RCV002478336
- Uncertain significance
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.62
- CADD 25.30
- PolyPhen-2 0.88
- SIFT 0.07
- ClinVar: Uncertain significance (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Cited in: Encephalocraniocutaneous Lipomatosis. (PMID 35099867)
- Cited in: Holoprosencephaly Overview. (PMID 20301702)