A5P (p.Ala5Pro) variant of FGFR3 (P22607)
A5P (p.Ala5Pro) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A5P (p.Ala5Pro) variant details
- p.Ala5Pro
- rs771133929
- ClinGen CA2809673
- ClinVar RCV002999630
- 1000Genomes rs771133929
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.46
- MetaLR 0.29
- MetaSVM -0.59
- CADD 22.50
- PolyPhen-2 0.12
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available