M1I (p.Met1Ile) variant of PANK2 (Q9BZ23)
M1I (p.Met1Ile) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1232851079
- gnomAD 20-3889472-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.42
- ESM-1b 0.56
- AlphaMissense 0.27
- MetaLR 0.80
- MetaSVM 0.66
- CADD 24.60
- Population evidence available
- Structural context available
- Literature evidence available