S2N (p.Ser2Asn) variant of GRIN1 (Q05586)
S2N (p.Ser2Asn) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- rs1832047745
- gnomAD 9-137139491-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.10
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available