T32N (p.Thr32Asn) variant of SYNGAP1 (Q96PV0)
T32N (p.Thr32Asn) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
T32N (p.Thr32Asn) variant details
- p.Thr32Asn
- NCI-TCGA Cosmic COSV9953
- cosmic curated COSV99538
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 22.50
- PolyPhen-2 0.14
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available