A9S (p.Ala9Ser) variant of FGFR3 (P22607)
A9S (p.Ala9Ser) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD 4-1793959-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.18
- MetaLR 0.23
- MetaSVM -0.85
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available