R2G (p.Arg2Gly) variant of PANK2 (Q9BZ23)
R2G (p.Arg2Gly) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R2G (p.Arg2Gly) variant details
- p.Arg2Gly
- rs2090063082
- gnomAD 20-3889104-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.66
- MetaSVM -0.13
- CADD 8.20
- Population evidence available
- Structural context available
- Literature evidence available