P50A (p.Pro50Ala) variant of SCN2A (Q99250)
P50A (p.Pro50Ala) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P50A (p.Pro50Ala) variant details
- p.Pro50Ala
- gnomAD 2-165295971-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.71
- ESM-1b 0.26
- AlphaMissense 0.19
- MetaLR 0.95
- MetaSVM 1.08
- CADD 23.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available