T29A (p.Thr29Ala) variant of FMR1 (Q06787)
T29A (p.Thr29Ala) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T29A (p.Thr29Ala) variant details
- p.Thr29Ala
- gnomAD X-147921966-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.41
- CADD 22.80
- PolyPhen-2 0.37
- SIFT 0.06
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.469
- Literature evidence available