W13C (p.Trp13Cys) variant of PANK2 (Q9BZ23)
W13C (p.Trp13Cys) 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.
W13C (p.Trp13Cys) variant details
- p.Trp13Cys
- rs2090064190
- gnomAD 20-3889139-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.41
- MetaLR 0.75
- MetaSVM 0.65
- CADD 18.75
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available