S21P (p.Ser21Pro) variant of FGFR3 (P22607)
S21P (p.Ser21Pro) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S21P (p.Ser21Pro) variant details
- p.Ser21Pro
- Ensembl rs2108752170
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.13
- MetaLR 0.25
- MetaSVM -0.82
- CADD 8.40
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available