T31S (p.Thr31Ser) variant of FGFR2 (P21802)
T31S (p.Thr31Ser) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Isolated Coronal Synostosis; Beare-Stevenson cutis gyrata syndrome; Crouzon synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
T31S (p.Thr31Ser) variant details
- p.Thr31Ser
- rs1863017903
- ClinGen CA378327834
- ClinVar RCV001106840
- ClinVar RCV001106841
- Uncertain significance
- Isolated Coronal Synostosis; Beare-Stevenson cutis gyrata syndrome; Crouzon synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- AlphaMissense 0.09
- MetaLR 0.20
- MetaSVM -0.87
- PolyPhen-2 0.04
- SIFT 0.48
- MutPred 0.23
- ClinVar: Uncertain significance (Isolated Coronal Synostosis; Beare-Stevenson cutis gyrata syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)
- Cited in: Genetic basis of potential therapeutic strategies for craniosynostosis. (PMID 21082653)