G5V (p.Gly5Val) variant of PANK2 (Q9BZ23)
G5V (p.Gly5Val) 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.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- gnomAD 20-3889114-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.69
- MetaSVM -0.07
- CADD 6.26
- Population evidence available
- Structural context available
- Literature evidence available