T39S (p.Thr39Ser) variant of FHL1 (Q13642)
T39S (p.Thr39Ser) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T39S (p.Thr39Ser) variant details
- p.Thr39Ser
- rs769992006
- gnomAD X-136206431-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.13
- CADD 18.60
- PolyPhen-2 0.10
- SIFT 0.06
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.177
- Literature evidence available