W4C (p.Trp4Cys) variant of FGFR1 (P11362)
W4C (p.Trp4Cys) in FGFR1 (P11362) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in HH2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
W4C (p.Trp4Cys) variant details
- p.Trp4Cys
- rs760884357
- UniProt VAR 074012
- gnomAD rs760884357
- cosmic curated COSV10024
- Uncertain significance
- in HH2
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.57
- CADD 28.50
- PolyPhen-2 0.64
- SIFT 0.01
- EBI: Variant of uncertain significance (in HH2)
- UniProt: Uncertain significance (in HH2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the… (PMID 26277103)
- Cited in: Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. (PMID 12627230)