P46R (p.Pro46Arg) variant of SYNGAP1 (Q96PV0)
P46R (p.Pro46Arg) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P46R (p.Pro46Arg) variant details
- p.Pro46Arg
- gnomAD 6-33423546-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- MetaLR 0.02
- MetaSVM -1.07
- CADD 22.80
- PolyPhen-2 0.95
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available