N2S (p.Asn2Ser) variant of ACTN2 (Alpha-actinin-2)
N2S (p.Asn2Ser) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N2S (p.Asn2Ser) variant details
- p.Asn2Ser
- gnomAD 1-236686678-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.25
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available