G5C (p.Gly5Cys) variant of PANK2 (Q9BZ23)
G5C (p.Gly5Cys) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- gnomAD 20-3889437-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.78
- MetaSVM 0.39
- CADD 19.58
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available