P23S (p.Pro23Ser) variant of FGFR2 (P21802)
P23S (p.Pro23Ser) in FGFR2 (P21802) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- TOPMed rs1309596973
- gnomAD rs1309596973
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.53
- AlphaMissense 0.23
- MetaLR 0.51
- MetaSVM -0.18
- CADD 26.10
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available