S24T (p.Ser24Thr) variant of FGFR3 (P22607)
S24T (p.Ser24Thr) in FGFR3 (P22607) 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 0.14 / 1. The record also includes population frequency data and structural context.
S24T (p.Ser24Thr) variant details
- p.Ser24Thr
- TOPMed rs1316755192
- gnomAD rs1316755192
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.12
- MetaLR 0.18
- MetaSVM -0.93
- CADD 3.24
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.7e-05)
- Structural context available