L8H (p.Leu8His) variant of FGFR3 (P22607)
L8H (p.Leu8His) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L8H (p.Leu8His) variant details
- p.Leu8His
- gnomAD 4-1793957-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.39
- MetaLR 0.22
- MetaSVM -0.67
- CADD 21.60
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available