D123N (p.Asp123Asn) variant of PRKAA1 (Q13131)
D123N (p.Asp123Asn) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D123N (p.Asp123Asn) variant details
- p.Asp123Asn
- Ensembl rs2112015576
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.11
- MetaLR 0.07
- MetaSVM -1.12
- CADD 24.80
- PolyPhen-2 0.76
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available