H15P (p.His15Pro) variant of PRKAA2 (P54646)
H15P (p.His15Pro) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H15P (p.His15Pro) variant details
- p.His15Pro
- ExAC rs763759018
- gnomAD rs763759018
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.23
- MetaLR 0.07
- MetaSVM -1.09
- CADD 26.60
- PolyPhen-2 0.82
- SIFT 0.02
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available