A5S (p.Ala5Ser) variant of FGFR3 (P22607)
A5S (p.Ala5Ser) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- gnomAD 4-1793947-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.18
- MetaLR 0.20
- MetaSVM -0.72
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available