P14L (p.Pro14Leu) variant of SYNGAP1 (Q96PV0)
P14L (p.Pro14Leu) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- gnomAD 6-33420305-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available