C11R (p.Cys11Arg) variant of FGFR3 (P22607)
C11R (p.Cys11Arg) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
C11R (p.Cys11Arg) variant details
- p.Cys11Arg
- gnomAD 4-1793965-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.21
- MetaLR 0.20
- MetaSVM -0.90
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available