Q3L (p.Gln3Leu) variant of ACTN2 (Alpha-actinin-2)
Q3L (p.Gln3Leu) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q3L (p.Gln3Leu) variant details
- p.Gln3Leu
- gnomAD 1-236686681-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.32
- CADD 24.80
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available