P17R (p.Pro17Arg) variant of PANK2 (Q9BZ23)
P17R (p.Pro17Arg) 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.
P17R (p.Pro17Arg) variant details
- p.Pro17Arg
- gnomAD 20-3889150-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.69
- MetaSVM 0.06
- CADD 19.52
- Population evidence available
- Structural context available
- Literature evidence available