N12S (p.Asn12Ser) variant of MAP2K1 (Q02750)
N12S (p.Asn12Ser) in MAP2K1 (Q02750) 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.
N12S (p.Asn12Ser) variant details
- p.Asn12Ser
- gnomAD 15-66387382-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.33
- MetaLR 0.57
- MetaSVM -0.36
- CADD 21.20
- PolyPhen-2 0.03
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available