K57E (p.Lys57Glu) variant of FHL1 (Q13642)
K57E (p.Lys57Glu) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K57E (p.Lys57Glu) variant details
- p.Lys57Glu
- gnomAD X-136206565-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.67
- CADD 23.20
- PolyPhen-2 0.80
- SIFT 0.32
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score 0.0082
- Literature evidence available