C6S (p.Cys6Ser) variant of FGFR3 (P22607)
C6S (p.Cys6Ser) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
C6S (p.Cys6Ser) variant details
- p.Cys6Ser
- Ensembl rs2108751846
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.21
- MetaLR 0.26
- MetaSVM -0.88
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.57
- Population evidence available
- Structural context available