H8R (p.His8Arg) variant of FHL1 (Q13642)
H8R (p.His8Arg) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H8R (p.His8Arg) variant details
- p.His8Arg
- rs1373896210
- gnomAD X-136197123-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.13
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the South Asian population (allele frequency 5.6e-05)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.0023
- Literature evidence available