V38M (p.Val38Met) variant of FGFR1 (P11362)
V38M (p.Val38Met) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V38M (p.Val38Met) variant details
- p.Val38Met
- rs377555354
- ClinGen CA4718877
- ClinVar RCV003788141
- ClinVar RCV005040499
- Conflicting interpretations
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome; Ence
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.15
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- Cited in: Encephalocraniocutaneous Lipomatosis. (PMID 35099867)
- Cited in: Holoprosencephaly Overview. (PMID 20301702)