T40I (p.Thr40Ile) variant of FGFR2 (P21802)
T40I (p.Thr40Ile) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bent bone dysplasia syndrome 1; Antley-Bixler syndrome without genital anomalies. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T40I (p.Thr40Ile) variant details
- p.Thr40Ile
- ExAC rs746629822
- gnomAD rs746629822
- Uncertain significance
- Bent bone dysplasia syndrome 1; Antley-Bixler syndrome without genital anomalies
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.31
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (Bent bone dysplasia syndrome 1; Antley-Bixler syndrome without g)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available