L20V (p.Leu20Val) variant of GRIN2D (O15399)
L20V (p.Leu20Val) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L20V (p.Leu20Val) variant details
- p.Leu20Val
- TOPMed rs1264683401
- gnomAD rs1264683401
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 5.9e-05)
- Structural context available