D23E (p.Asp23Glu) variant of FHL1 (Q13642)
D23E (p.Asp23Glu) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D23E (p.Asp23Glu) variant details
- p.Asp23Glu
- rs748075349
- gnomAD X-136206450-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.12
- CADD 17.20
- PolyPhen-2 0.27
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -1.04
- Literature evidence available