S43N (p.Ser43Asn) variant of GRIN2A (Q12879)
S43N (p.Ser43Asn) 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 0.47 / 1. The record also includes population frequency data and structural context.
S43N (p.Ser43Asn) variant details
- p.Ser43Asn
- NCI-TCGA Cosmic COSV5802
- cosmic curated COSV58025
- Ensembl rs2142390569
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.29
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available