A69V (p.Ala69Val) variant of FHL1 (Q13642)
A69V (p.Ala69Val) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A69V (p.Ala69Val) variant details
- p.Ala69Val
- rs372301312
- gnomAD X-136206578-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.26
- AlphaMissense 0.33
- MetaLR 0.47
- MetaSVM -0.18
- CADD 19.40
- PolyPhen-2 0.56
- Most common in the 1KG:PJL population (allele frequency 0.007)
- Structural context available
- Literature evidence available