R22K (p.Arg22Lys) variant of SYNGAP1 (Q96PV0)
R22K (p.Arg22Lys) 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.
R22K (p.Arg22Lys) variant details
- p.Arg22Lys
- gnomAD 6-33420329-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 20.70
- PolyPhen-2 0.07
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available