S21Y (p.Ser21Tyr) variant of FGFR3 (P22607)
S21Y (p.Ser21Tyr) in FGFR3 (P22607) is a missense change. The available record places it in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S21Y (p.Ser21Tyr) variant details
- p.Ser21Tyr
- rs587778351
- ClinGen CA159679
- ClinVar RCV000121068
- Ensembl rs587778351
- not provided
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.17
- MetaLR 0.36
- MetaSVM -0.63
- CADD 10.70
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: not provided (not specified)
- UniProt: Not provided
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available