F21L (p.Phe21Leu) variant of SYNGAP1 (Q96PV0)
F21L (p.Phe21Leu) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
F21L (p.Phe21Leu) variant details
- p.Phe21Leu
- gnomAD 6-33420325-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 19.60
- PolyPhen-2 0.15
- SIFT 0.74
- Population evidence available
- Structural context available
- Literature evidence available