R30C (p.Arg30Cys) variant of PANK2 (Q9BZ23)
R30C (p.Arg30Cys) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R30C (p.Arg30Cys) variant details
- p.Arg30Cys
- rs778955722
- gnomAD 20-3889188-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.74
- MetaSVM 0.08
- CADD 4.70
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available