Q29K (p.Gln29Lys) variant of FGFR3 (P22607)
Q29K (p.Gln29Lys) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q29K (p.Gln29Lys) variant details
- p.Gln29Lys
- gnomAD 4-1794019-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.04
- MetaLR 0.26
- MetaSVM -0.82
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available