L8F (p.Leu8Phe) variant of FGFR3 (P22607)
L8F (p.Leu8Phe) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- cosmic curated COSV53405
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.30
- MetaLR 0.27
- MetaSVM -0.82
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available