M1M (p.Met1Met) variant of PANK2 (Q9BZ23)
M1M (p.Met1Met) in PANK2 (Q9BZ23) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
M1M (p.Met1Met) variant details
- p.Met1Met
- rs983462252
- gnomAD 20-3889431-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.585
- AlphaMissense 0.10
- MetaLR 0.86
- MetaSVM 0.40
- CADD 11.64
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available