M15L (p.Met15Leu) variant of FGFR2 (P21802)
M15L (p.Met15Leu) 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 0.40 / 1. The record also includes population frequency data and structural context.
M15L (p.Met15Leu) variant details
- p.Met15Leu
- gnomAD rs1451094453
- Uncertain significance
- Bent bone dysplasia syndrome 1; Antley-Bixler syndrome without genital anomalies
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.34
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.54
- 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 1KG:GIH population (allele frequency 0.0053)
- Structural context available