D8N (p.Asp8Asn) variant of PRKAA2 (P54646)
D8N (p.Asp8Asn) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D8N (p.Asp8Asn) variant details
- p.Asp8Asn
- gnomAD 1-56645409-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.15
- MetaLR 0.19
- MetaSVM -0.88
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available