F13V (p.Phe13Val) variant of GRIN1 (Q05586)
F13V (p.Phe13Val) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
F13V (p.Phe13Val) variant details
- p.Phe13Val
- gnomAD 9-137139523-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.08
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available