T17A (p.Thr17Ala) variant of FGFR2 (P21802)
T17A (p.Thr17Ala) in FGFR2 (P21802) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T17A (p.Thr17Ala) variant details
- p.Thr17Ala
- rs1417346628
- TOPMed rs1417346628
- gnomAD rs1417346628
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.15
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available