A671V (p.Ala671Val) variant of FGFR1 (P11362)
A671V (p.Ala671Val) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
A671V (p.Ala671Val) variant details
- p.Ala671Val
- TOPMed rs1815634821
- Conflicting interpretations
- Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.80
- CADD 30.00
- ClinVar: Conflicting classifications of pathogenicity (Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or witho)
- UniProt: Conflicting interpretations (in HH2)
- Most common in the Middle Eastern population (allele frequency 0.0045)
- Structural context available