V20M (p.Val20Met) variant of FHL1 (Q13642)
V20M (p.Val20Met) 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.
V20M (p.Val20Met) variant details
- p.Val20Met
- gnomAD X-136206424-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.08
- CADD 18.10
- PolyPhen-2 0.18
- SIFT 0.03
- 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 -0.125
- Literature evidence available