V71M (p.Val71Met) variant of FGFR1 (P11362)
V71M (p.Val71Met) 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; Ence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V71M (p.Val71Met) variant details
- p.Val71Met
- rs561300213
- ClinGen CA370736424
- ClinVar RCV001251093
- 1000Genomes rs561300213
- Conflicting interpretations
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome; Ence
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- AlphaMissense 0.10
- MetaLR 0.22
- MetaSVM -0.71
- PolyPhen-2 0.27
- SIFT 0.04
- EVE 0.30
- ClinVar: Conflicting classifications of pathogenicity (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)