V35L (p.Val35Leu) variant of SYNGAP1 (Q96PV0)
V35L (p.Val35Leu) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V35L (p.Val35Leu) variant details
- p.Val35Leu
- gnomAD rs1212521412
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 21.70
- PolyPhen-2 0.51
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available