A6V (p.Ala6Val) variant of SYNGAP1 (Q96PV0)
A6V (p.Ala6Val) 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.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- gnomAD 6-33420281-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available