S19F (p.Ser19Phe) variant of FGFR2 (P21802)
S19F (p.Ser19Phe) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S19F (p.Ser19Phe) variant details
- p.Ser19Phe
- rs760903123
- ClinGen CA5721247
- cosmic curated COSV10520
- ClinVar RCV003127145
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.54
- CADD 24.00
- PolyPhen-2 0.42
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available