N11D (p.Asn11Asp) variant of ACTN2 (Alpha-actinin-2)
N11D (p.Asn11Asp) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
N11D (p.Asn11Asp) variant details
- p.Asn11Asp
- gnomAD 1-236686704-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.18
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available