C6R (p.Cys6Arg) variant of FGFR3 (P22607)
C6R (p.Cys6Arg) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
C6R (p.Cys6Arg) variant details
- p.Cys6Arg
- Ensembl rs2108751840
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.21
- MetaLR 0.27
- MetaSVM -0.87
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available