K4N (p.Lys4Asn) variant of PRKAA2 (P54646)
K4N (p.Lys4Asn) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
K4N (p.Lys4Asn) variant details
- p.Lys4Asn
- gnomAD 1-56645399-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.08
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available