S45C (p.Ser45Cys) variant of FGFR2 (P21802)
S45C (p.Ser45Cys) in FGFR2 (P21802) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S45C (p.Ser45Cys) variant details
- p.Ser45Cys
- Ensembl rs2135123966
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.16
- CADD 23.60
- PolyPhen-2 0.05
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available