T32I (p.Thr32Ile) variant of SYNGAP1 (Q96PV0)
T32I (p.Thr32Ile) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
T32I (p.Thr32Ile) variant details
- p.Thr32Ile
- Ensembl rs572878244
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- CADD 19.70
- PolyPhen-2 0.03
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available