A3S (p.Ala3Ser) variant of FGFR3 (P22607)
A3S (p.Ala3Ser) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD rs1259385466
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.21
- MetaLR 0.24
- MetaSVM -0.84
- CADD 9.13
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available