D133H (p.Asp133His) variant of FGFR1 (P11362)
D133H (p.Asp133His) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism 2 with or without a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
D133H (p.Asp133His) variant details
- p.Asp133His
- TOPMed rs1248111718
- gnomAD rs1248111718
- Likely pathogenic
- Hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism 2 with or without a
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.37
- CADD 24.60
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism 2 w)
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available