L34V (p.Leu34Val) variant of GRIN2A (Q12879)
L34V (p.Leu34Val) 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 0.38 / 1. The record also includes population frequency data and structural context.
L34V (p.Leu34Val) variant details
- p.Leu34Val
- cosmic curated COSV58047
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.33
- CADD 20.00
- PolyPhen-2 0.04
- SIFT 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available