P4L (p.Pro4Leu) variant of FGFR3 (P22607)
P4L (p.Pro4Leu) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- Ensembl rs2108751811
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.18
- MetaLR 0.29
- MetaSVM -0.80
- CADD 9.51
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available