A13S (p.Ala13Ser) variant of FGFR3 (P22607)
A13S (p.Ala13Ser) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- gnomAD 4-1793971-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.11
- MetaLR 0.21
- MetaSVM -0.87
- CADD 19.60
- PolyPhen-2 0.02
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available