D20N (p.Asp20Asn) variant of PRKAA2 (P54646)
D20N (p.Asp20Asn) in PRKAA2 (P54646) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D20N (p.Asp20Asn) variant details
- p.Asp20Asn
- ExAC rs781236377
- TOPMed rs781236377
- gnomAD rs781236377
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.09
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.6e-05)
- Structural context available