V20L (p.Val20Leu) variant of FHL1 (Q13642)
V20L (p.Val20Leu) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V20L (p.Val20Leu) variant details
- p.Val20Leu
- gnomAD X-136206424-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.09
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.125
- Literature evidence available