P11R (p.Pro11Arg) variant of SCN2A (Q99250)
P11R (p.Pro11Arg) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P11R (p.Pro11Arg) variant details
- p.Pro11Arg
- gnomAD 2-165295855-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.35
- MetaLR 0.94
- MetaSVM 1.07
- CADD 25.50
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available