L8P (p.Leu8Pro) variant of FGFR3 (P22607)
L8P (p.Leu8Pro) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- Ensembl rs2108751889
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.51
- MetaLR 0.26
- MetaSVM -0.67
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available