T27A (p.Thr27Ala) variant of FGFR3 (P22607)
T27A (p.Thr27Ala) 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 and structural context.
T27A (p.Thr27Ala) variant details
- p.Thr27Ala
- cosmic curated COSV99601
- TOPMed rs1233540365
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.10
- MetaLR 0.16
- MetaSVM -0.84
- CADD 4.69
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available