M1T (p.Met1Thr) variant of PANK2 (Q9BZ23)
M1T (p.Met1Thr) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- gnomAD 20-3889471-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.81
- MetaSVM 0.62
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available