R621L (p.Arg621Leu) variant of FGFR3 (P22607)
R621L (p.Arg621Leu) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; FGFR3-related chondrodysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
R621L (p.Arg621Leu) variant details
- p.Arg621Leu
- rs121913113
- ClinGen CA355982310
- ClinVar RCV001768530
- gnomAD rs121913113
- Uncertain significance
- not provided; FGFR3-related chondrodysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Uncertain significance (not provided; FGFR3-related chondrodysplasia)
- EBI: Pathogenic (in CATSHLS)
- UniProt: Pathogenic (in CATSHLS)
- Structural context available