R3G (p.Arg3Gly) variant of PANK2 (Q9BZ23)
R3G (p.Arg3Gly) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- gnomAD 20-3889107-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.75
- MetaSVM 0.09
- CADD 9.59
- Population evidence available
- Structural context available
- Literature evidence available