G5R (p.Gly5Arg) variant of PANK2 (Q9BZ23)
G5R (p.Gly5Arg) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- gnomAD 20-3889113-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.70
- MetaSVM -0.05
- CADD 0.54
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available