S21A (p.Ser21Ala) variant of FGFR3 (P22607)
S21A (p.Ser21Ala) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S21A (p.Ser21Ala) variant details
- p.Ser21Ala
- gnomAD 4-1793995-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.10
- MetaLR 0.19
- MetaSVM -0.88
- CADD 1.27
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available