S12N (p.Ser12Asn) variant of SYNGAP1 (Q96PV0)
S12N (p.Ser12Asn) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- gnomAD 6-33420299-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 21.30
- PolyPhen-2 0.02
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available