T652A (p.Thr652Ala) variant of FGFR3 (P22607)
T652A (p.Thr652Ala) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thanatophoric dysplasia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
T652A (p.Thr652Ala) variant details
- p.Thr652Ala
- rs1358618786
- ClinGen CA355982627
- ClinVar RCV001376025
- gnomAD rs1358618786
- Pathogenic
- Thanatophoric dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- AlphaMissense 0.66
- MetaLR 0.59
- MetaSVM 0.26
- PolyPhen-2 0.91
- SIFT 0.00
- EVE 0.57
- ClinVar: Pathogenic (Thanatophoric dysplasia type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Thanatophoric Dysplasia. (PMID 20301540)