K29N (p.Lys29Asn) variant of PRKAA2 (P54646)
K29N (p.Lys29Asn) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
K29N (p.Lys29Asn) variant details
- p.Lys29Asn
- gnomAD 1-56645474-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.59
- MetaLR 0.44
- MetaSVM -0.08
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available