T27M (p.Thr27Met) variant of FGFR3 (P22607)
T27M (p.Thr27Met) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T27M (p.Thr27Met) variant details
- p.Thr27Met
- Ensembl rs2108752306
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.21
- MetaLR 0.33
- MetaSVM -0.72
- CADD 15.30
- PolyPhen-2 0.05
- SIFT 0.68
- Most common in the HGDP:BEDOUIN population (allele frequency 0.024)
- Structural context available