A15S (p.Ala15Ser) variant of FGFR3 (P22607)
A15S (p.Ala15Ser) 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 0.26 / 1. The record also includes population frequency data and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- rs573850631
- ClinGen CA355985490
- ClinVar RCV001561661
- 1000Genomes rs573850631
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.19
- MetaLR 0.22
- MetaSVM -0.92
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available