T32T (p.Thr32Thr) variant of SYNGAP1 (Q96PV0)
T32T (p.Thr32Thr) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T32T (p.Thr32Thr) variant details
- p.Thr32Thr
- rs1227326260
- gnomAD 6-33423505-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.333
- AlphaMissense 0.09
- MetaLR 0.00
- MetaSVM -0.94
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available