A14S (p.Ala14Ser) variant of PANK2 (Q9BZ23)
A14S (p.Ala14Ser) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- rs766040462
- gnomAD 20-3889140-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.69
- MetaSVM 0.16
- CADD 18.20
- Population evidence available
- Structural context available
- Literature evidence available