R3W (p.Arg3Trp) variant of PANK2 (Q9BZ23)
R3W (p.Arg3Trp) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R3W (p.Arg3Trp) variant details
- p.Arg3Trp
- gnomAD 20-3889107-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.71
- MetaSVM 0.25
- CADD 7.92
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available