T320A (p.Thr320Ala) variant of FGFR2 (P21802)
T320A (p.Thr320Ala) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; FGFR2-related craniosynostosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
T320A (p.Thr320Ala) variant details
- p.Thr320Ala
- rs2134260022
- ClinGen CA378328495
- ClinVar RCV001864146
- ClinVar RCV003238873
- Pathogenic
- not provided; FGFR2-related craniosynostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- AlphaMissense 0.73
- MetaLR 0.24
- MetaSVM -0.72
- PolyPhen-2 0.00
- SIFT 0.02
- EVE 0.41
- ClinVar: Pathogenic (not provided; FGFR2-related craniosynostosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)