A49A (p.Ala49Ala) variant of FHL1 (Q13642)
A49A (p.Ala49Ala) in FHL1 (Q13642) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A49A (p.Ala49Ala) variant details
- p.Ala49Ala
- rs1458693544
- gnomAD X-136206543-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 14.20
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.0239
- Literature evidence available