F28V (p.Phe28Val) variant of GRIN2D (O15399)
F28V (p.Phe28Val) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
F28V (p.Phe28Val) variant details
- p.Phe28Val
- gnomAD 19-48398474-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.42
- CADD 22.50
- PolyPhen-2 0.08
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available