A18S (p.Ala18Ser) variant of FGFR3 (P22607)
A18S (p.Ala18Ser) in FGFR3 (P22607) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- cosmic curated COSV99604
- TOPMed rs908992323
- gnomAD rs908992323
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.12
- MetaLR 0.21
- MetaSVM -0.89
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available