A61T (p.Ala61Thr) variant of GRIN2A (Q12879)
A61T (p.Ala61Thr) 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 0.17 / 1. The record also includes population frequency data and structural context.
A61T (p.Ala61Thr) variant details
- p.Ala61Thr
- rs750050760
- NCI-TCGA Cosmic COSV5801
- cosmic curated COSV58019
- ExAC rs750050760
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.08
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.56
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available