P28L (p.Pro28Leu) variant of FGFR1 (P11362)
P28L (p.Pro28Leu) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome; Hart. 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.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- rs145434725
- ClinGen CA4718940
- ClinVar RCV000493590
- ClinVar RCV001856982
- Conflicting interpretations
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome; Hart
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.37
- CADD 23.00
- PolyPhen-2 0.16
- SIFT 0.43
- ClinVar: Conflicting classifications of pathogenicity (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Encephalocraniocutaneous Lipomatosis. (PMID 35099867)
- Cited in: Holoprosencephaly Overview. (PMID 20301702)