N1458S (p.Asn1458Ser) variant of GRIN2B (Q13224)
N1458S (p.Asn1458Ser) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
N1458S (p.Asn1458Ser) variant details
- p.Asn1458Ser
- rs577649736
- gnomAD 12-13562865-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- MetaLR 0.03
- MetaSVM -1.03
- CADD 21.70
- PolyPhen-2 0.07
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available