G16V (p.Gly16Val) variant of FHL1 (Q13642)
G16V (p.Gly16Val) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- gnomAD X-136206407-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.23
- CADD 22.50
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.505
- Literature evidence available