V54M (p.Val54Met) variant of FHL1 (Q13642)
V54M (p.Val54Met) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V54M (p.Val54Met) variant details
- p.Val54Met
- rs776249397
- gnomAD X-136206553-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.40
- CADD 23.10
- PolyPhen-2 0.76
- SIFT 0.11
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.339
- Literature evidence available