D27N (p.Asp27Asn) variant of ACTN2 (Alpha-actinin-2)
D27N (p.Asp27Asn) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D27N (p.Asp27Asn) variant details
- p.Asp27Asn
- ExAC rs765471221
- gnomAD rs765471221
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.21
- CADD 24.10
- PolyPhen-2 0.96
- SIFT 0.18
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available