P14T (p.Pro14Thr) variant of SYNGAP1 (Q96PV0)
P14T (p.Pro14Thr) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P14T (p.Pro14Thr) variant details
- p.Pro14Thr
- gnomAD 6-33420304-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available