S3C (p.Ser3Cys) variant of FGFR1 (P11362)
S3C (p.Ser3Cys) in FGFR1 (P11362) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S3C (p.Ser3Cys) variant details
- p.Ser3Cys
- gnomAD rs1241452278
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.42
- CADD 24.30
- PolyPhen-2 0.30
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available