F7S (p.Phe7Ser) variant of PANK2 (Q9BZ23)
F7S (p.Phe7Ser) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
F7S (p.Phe7Ser) variant details
- p.Phe7Ser
- rs1459133770
- gnomAD 20-3889120-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.65
- MetaSVM -0.12
- CADD 8.91
- Population evidence available
- Structural context available
- Literature evidence available