A2A (p.Ala2Ala) variant of FHL1 (Q13642)
A2A (p.Ala2Ala) in FHL1 (Q13642) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs2073841429
- gnomAD X-136206438-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.116
- CADD 5.02
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score 0.422
- Literature evidence available