R47R (p.Arg47Arg) variant of SYNGAP1 (Q96PV0)
R47R (p.Arg47Arg) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R47R (p.Arg47Arg) variant details
- p.Arg47Arg
- rs1394094414
- gnomAD 6-33423550-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.5
- AlphaMissense 0.07
- MetaLR 0.00
- MetaSVM -0.90
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.82
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available