S24Y (p.Ser24Tyr) variant of FGFR3 (P22607)
S24Y (p.Ser24Tyr) 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.
S24Y (p.Ser24Tyr) variant details
- p.Ser24Tyr
- gnomAD 4-1794005-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.19
- MetaLR 0.32
- MetaSVM -0.73
- CADD 18.00
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available