M1R (p.Met1Arg) variant of PANK2 (Q9BZ23)
M1R (p.Met1Arg) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- gnomAD 20-3889471-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.83
- MetaSVM 0.59
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available