H7N (p.His7Asn) variant of PRKAA2 (P54646)
H7N (p.His7Asn) in PRKAA2 (P54646) is a missense change. Clinical records from ClinVar, EBI, 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 0.36 / 1. The record also includes population frequency data and structural context.
H7N (p.His7Asn) variant details
- p.His7Asn
- rs2523473692
- ClinGen CA340495286
- ClinVar RCV004321653
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.20
- MetaLR 0.19
- MetaSVM -0.88
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available