N11K (p.Asn11Lys) variant of ACTN2 (Alpha-actinin-2)
N11K (p.Asn11Lys) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
N11K (p.Asn11Lys) variant details
- p.Asn11Lys
- gnomAD 1-236686706-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.16
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available