M1V (p.Met1Val) variant of PANK2 (Q9BZ23)
M1V (p.Met1Val) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1368727421
- gnomAD 20-3889470-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.78
- MetaSVM 0.60
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available