P7A (p.Pro7Ala) variant of GRIN2D (O15399)
P7A (p.Pro7Ala) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- gnomAD 19-48398411-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 23.10
- PolyPhen-2 0.21
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available