G5D (p.Gly5Asp) variant of PANK2 (Q9BZ23)
G5D (p.Gly5Asp) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- rs1268207892
- gnomAD 20-3889438-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.75
- MetaSVM -0.01
- CADD 11.19
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available