G31E (p.Gly31Glu) variant of PANK2 (Q9BZ23)
G31E (p.Gly31Glu) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and published literature.
G31E (p.Gly31Glu) variant details
- p.Gly31Glu
- rs1310978152
- gnomAD 20-3889192-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.65
- MetaSVM -0.19
- CADD 2.87
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Literature evidence available