N12K (p.Asn12Lys) variant of MAP2K1 (Q02750)
N12K (p.Asn12Lys) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N12K (p.Asn12Lys) variant details
- p.Asn12Lys
- gnomAD 15-66387383-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.30
- MetaLR 0.52
- MetaSVM -0.42
- CADD 18.90
- PolyPhen-2 0.08
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available