T32A (p.Thr32Ala) variant of FGFR2 (P21802)
T32A (p.Thr32Ala) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T32A (p.Thr32Ala) variant details
- p.Thr32Ala
- rs775194870
- ClinGen CA5721240
- cosmic curated COSV60662
- ClinVar RCV003588410
- Uncertain significance
- FGFR2-related craniosynostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.42
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (FGFR2-related craniosynostosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)