Y6S (p.Tyr6Ser) variant of GRIN2A (Q12879)
Y6S (p.Tyr6Ser) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
Y6S (p.Tyr6Ser) variant details
- p.Tyr6Ser
- Ensembl rs2050243693
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.12
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available