T29S (p.Thr29Ser) variant of FMR1 (Q06787)
T29S (p.Thr29Ser) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T29S (p.Thr29Ser) variant details
- p.Thr29Ser
- gnomAD X-147921966-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.45
- CADD 22.10
- PolyPhen-2 0.09
- SIFT 0.14
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.469
- Literature evidence available