N12H (p.Asn12His) variant of MAP2K1 (Q02750)
N12H (p.Asn12His) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
N12H (p.Asn12His) variant details
- p.Asn12His
- gnomAD rs1267190015
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.45
- MetaLR 0.68
- MetaSVM 0.33
- CADD 24.10
- PolyPhen-2 0.55
- SIFT 0.13
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available