S21F (p.Ser21Phe) variant of FGFR3 (P22607)
S21F (p.Ser21Phe) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S21F (p.Ser21Phe) variant details
- p.Ser21Phe
- cosmic curated COSV53408
- Ensembl rs587778351
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.14
- MetaLR 0.36
- MetaSVM -0.63
- CADD 12.70
- PolyPhen-2 0.02
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available