Q21P (p.Gln21Pro) variant of FHL1 (Q13642)
Q21P (p.Gln21Pro) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q21P (p.Gln21Pro) variant details
- p.Gln21Pro
- gnomAD X-136206494-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.42
- CADD 21.50
- PolyPhen-2 0.40
- SIFT 0.15
- 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 -0.302
- Literature evidence available