P4A (p.Pro4Ala) variant of FGFR3 (P22607)
P4A (p.Pro4Ala) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P4A (p.Pro4Ala) variant details
- p.Pro4Ala
- TOPMed rs1438844182
- gnomAD rs1438844182
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.23
- MetaLR 0.27
- MetaSVM -0.84
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available