p.Ala15 Ile16insMetAla variant of FGFR3 (P22607)
p.Ala15 Ile16insMetAla in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala15 Ile16insMetAla variant details
- gnomAD 4-1793974-G-GTGGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 14.60
- Most common in the Non-Finnish European population (allele frequency 4.1e-06)
- Structural context available
- Literature evidence available