H15Y (p.His15Tyr) variant of PRKAA2 (P54646)
H15Y (p.His15Tyr) 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 0.43 / 1. The record also includes population frequency data and structural context.
H15Y (p.His15Tyr) variant details
- p.His15Tyr
- rs1330973554
- ClinGen CA340495421
- ClinVar RCV004515073
- gnomAD rs1330973554
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.30
- MetaLR 0.07
- MetaSVM -1.01
- CADD 25.80
- PolyPhen-2 0.76
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available