M58T (p.Met58Thr) variant of SYNGAP1 (Q96PV0)
M58T (p.Met58Thr) 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 and structural context.
M58T (p.Met58Thr) variant details
- p.Met58Thr
- gnomAD rs1335795070
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 23.30
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available