R67G (p.Arg67Gly) variant of FHL1 (Q13642)
R67G (p.Arg67Gly) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R67G (p.Arg67Gly) variant details
- p.Arg67Gly
- gnomAD X-136207034-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.87
- CADD 23.10
- PolyPhen-2 0.20
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available