S18T (p.Ser18Thr) variant of PANK2 (Q9BZ23)
S18T (p.Ser18Thr) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S18T (p.Ser18Thr) variant details
- p.Ser18Thr
- gnomAD 20-3889152-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.84
- MetaSVM 0.38
- CADD 18.31
- Population evidence available
- Structural context available
- Literature evidence available