A16T (p.Ala16Thr) variant of FGFR2 (P21802)
A16T (p.Ala16Thr) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- cosmic curated COSV60658
- TOPMed rs984992964
- gnomAD rs984992964
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.45
- CADD 23.60
- PolyPhen-2 0.24
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available