A19A (p.Ala19Ala) variant of SYNGAP1 (Q96PV0)
A19A (p.Ala19Ala) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A19A (p.Ala19Ala) variant details
- p.Ala19Ala
- rs1411216735
- gnomAD 6-33420321-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 13.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available