D29H (p.Asp29His) variant of ACTN2 (Alpha-actinin-2)
D29H (p.Asp29His) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D29H (p.Asp29His) variant details
- p.Asp29His
- gnomAD 1-236686758-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.34
- CADD 32.00
- PolyPhen-2 0.48
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available