V14L (p.Val14Leu) variant of FGFR3 (P22607)
V14L (p.Val14Leu) 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, published literature, and structural context.
V14L (p.Val14Leu) variant details
- p.Val14Leu
- gnomAD 4-1793974-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.10
- MetaLR 0.18
- MetaSVM -0.97
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Middle Eastern population (allele frequency 0.00022)
- Structural context available
- Literature evidence available