T29K (p.Thr29Lys) variant of FMR1 (Q06787)
T29K (p.Thr29Lys) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T29K (p.Thr29Lys) variant details
- p.Thr29Lys
- gnomAD X-147921967-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.43
- CADD 25.20
- PolyPhen-2 0.73
- SIFT 0.01
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.469
- Literature evidence available