D50V (p.Asp50Val) variant of FHL1 (Q13642)
D50V (p.Asp50Val) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D50V (p.Asp50Val) variant details
- p.Asp50Val
- rs1207531202
- gnomAD X-136206530-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.82
- AlphaMissense 0.91
- MetaLR 0.72
- MetaSVM 0.57
- CADD 26.00
- PolyPhen-2 0.96
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.874
- Literature evidence available