R621C (p.Arg621Cys) variant of FGFR3 (P22607)
R621C (p.Arg621Cys) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of FGFR3-related chondrodysplasia; not provided; Camptodactyly-tall stature-scolios. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
R621C (p.Arg621Cys) variant details
- p.Arg621Cys
- rs2108806537
- ClinGen CA355982305
- ClinVar RCV002236450
- ClinVar RCV005869737
- Conflicting interpretations
- FGFR3-related chondrodysplasia; not provided; Camptodactyly-tall stature-scolios
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Conflicting classifications of pathogenicity (FGFR3-related chondrodysplasia; not provided; Camptodactyly-tall)
- EBI: Likely pathogenic (in CATSHLS)
- UniProt: Likely pathogenic (in CATSHLS)
- Structural context available