D29E (p.Asp29Glu) variant of ACTN2 (Alpha-actinin-2)
D29E (p.Asp29Glu) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D29E (p.Asp29Glu) variant details
- p.Asp29Glu
- gnomAD 1-236686760-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.06
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.86
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available