Q9K (p.Gln9Lys) variant of ACTN2 (Alpha-actinin-2)
Q9K (p.Gln9Lys) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Q9K (p.Gln9Lys) variant details
- p.Gln9Lys
- gnomAD rs1665880953
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.33
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available