S14F (p.Ser14Phe) variant of GRIN1 (Q05586)
S14F (p.Ser14Phe) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S14F (p.Ser14Phe) variant details
- p.Ser14Phe
- gnomAD 9-137139527-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.25
- CADD 23.80
- PolyPhen-2 0.12
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available