N1427S (p.Asn1427Ser) variant of GRIN2B (Q13224)
N1427S (p.Asn1427Ser) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and published literature.
N1427S (p.Asn1427Ser) variant details
- p.Asn1427Ser
- rs1948568369
- gnomAD 12-13562958-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- MetaLR 0.00
- MetaSVM -0.97
- CADD 16.40
- PolyPhen-2 0.02
- SIFT 0.62
- Population evidence available
- Literature evidence available