M1K (p.Met1Lys) variant of PANK2 (Q9BZ23)
M1K (p.Met1Lys) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- gnomAD 20-3889471-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.57
- ESM-1b 0.20
- AlphaMissense 0.16
- MetaLR 0.82
- MetaSVM 0.58
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available