H8P (p.His8Pro) variant of FHL1 (Q13642)
H8P (p.His8Pro) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H8P (p.His8Pro) variant details
- p.His8Pro
- gnomAD X-136197129-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.11
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.07
- 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 -0.0023
- Literature evidence available