C19S (p.Cys19Ser) variant of FGFR1 (P11362)
C19S (p.Cys19Ser) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
C19S (p.Cys19Ser) variant details
- p.Cys19Ser
- Ensembl rs2151343971
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.32
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00029)
- Structural context available