A27P (p.Ala27Pro) variant of GRIN2A (Q12879)
A27P (p.Ala27Pro) in GRIN2A (Q12879) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A27P (p.Ala27Pro) variant details
- p.Ala27Pro
- TOPMed rs1478469530
- gnomAD rs1478469530
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.07
- CADD 22.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available