P17A (p.Pro17Ala) variant of PANK2 (Q9BZ23)
P17A (p.Pro17Ala) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P17A (p.Pro17Ala) variant details
- p.Pro17Ala
- gnomAD 20-3889494-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.69
- MetaSVM -0.00
- CADD 20.90
- Population evidence available
- Structural context available
- Literature evidence available