R10S (p.Arg10Ser) variant of PANK2 (Q9BZ23)
R10S (p.Arg10Ser) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R10S (p.Arg10Ser) variant details
- p.Arg10Ser
- gnomAD 20-3889128-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.70
- MetaSVM 0.03
- CADD 16.10
- Population evidence available
- Structural context available
- Literature evidence available