K6N (p.Lys6Asn) variant of PRKAA2 (P54646)
K6N (p.Lys6Asn) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K6N (p.Lys6Asn) variant details
- p.Lys6Asn
- gnomAD 1-56645405-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.14
- CADD 22.70
- PolyPhen-2 0.16
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available