T8N (p.Thr8Asn) variant of GRIN2A (Q12879)
T8N (p.Thr8Asn) in GRIN2A (Q12879) 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 0.24 / 1. The record also includes population frequency data and structural context.
T8N (p.Thr8Asn) variant details
- p.Thr8Asn
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10040
- ExAC rs773135168
- TOPMed rs773135168
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.03
- CADD 19.50
- PolyPhen-2 0.07
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available