R30L (p.Arg30Leu) variant of PANK2 (Q9BZ23)
R30L (p.Arg30Leu) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R30L (p.Arg30Leu) variant details
- p.Arg30Leu
- rs748578547
- gnomAD 20-3889189-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.69
- MetaSVM -0.06
- CADD 3.81
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.5e-05)
- Structural context available
- Literature evidence available