A14T (p.Ala14Thr) variant of PANK2 (Q9BZ23)
A14T (p.Ala14Thr) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs766040462
- gnomAD 20-3889140-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.69
- MetaSVM 0.17
- CADD 18.92
- Population evidence available
- Structural context available
- Literature evidence available