P4S (p.Pro4Ser) variant of FGFR3 (P22607)
P4S (p.Pro4Ser) 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, published literature, and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- gnomAD 4-1793944-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.26
- MetaLR 0.32
- MetaSVM -0.74
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available