W13G (p.Trp13Gly) variant of PANK2 (Q9BZ23)
W13G (p.Trp13Gly) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
W13G (p.Trp13Gly) variant details
- p.Trp13Gly
- rs971003044
- gnomAD 20-3889137-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.70
- MetaSVM 0.14
- CADD 17.45
- Most common in the Finnish in Finland (FIN) population (allele frequency 4e-05)
- Structural context available
- Literature evidence available