P35R (p.Pro35Arg) variant of FGFR2 (P21802)
P35R (p.Pro35Arg) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of FGFR2-related craniosynostosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P35R (p.Pro35Arg) variant details
- p.Pro35Arg
- Ensembl rs2135482046
- Uncertain significance
- FGFR2-related craniosynostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.54
- CADD 24.70
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (FGFR2-related craniosynostosis)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available