K5N (p.Lys5Asn) variant of MAP2K1 (Q02750)
K5N (p.Lys5Asn) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MAP2K1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
K5N (p.Lys5Asn) variant details
- p.Lys5Asn
- rs2140511623
- ClinGen CA392931481
- ClinVar RCV004531552
- Uncertain significance
- MAP2K1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.47
- MetaLR 0.66
- MetaSVM 0.33
- CADD 24.70
- PolyPhen-2 0.38
- SIFT 0.08
- ClinVar: Uncertain significance (MAP2K1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available