W36L (p.Trp36Leu) variant of ACTN2 (Alpha-actinin-2)
W36L (p.Trp36Leu) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
W36L (p.Trp36Leu) variant details
- p.Trp36Leu
- gnomAD 1-236686780-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.46
- CADD 32.00
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available