I13N (p.Ile13Asn) variant of SYNGAP1 (Q96PV0)
I13N (p.Ile13Asn) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
I13N (p.Ile13Asn) variant details
- p.Ile13Asn
- gnomAD 6-33420302-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available