K4N (p.Lys4Asn) variant of MAP2K1 (Q02750)
K4N (p.Lys4Asn) in MAP2K1 (Q02750) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
K4N (p.Lys4Asn) variant details
- p.Lys4Asn
- TOPMed rs1489477346
- gnomAD rs1489477346
- NCI-TCGA Cosmic COSV6107
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.38
- MetaLR 0.57
- MetaSVM 0.19
- CADD 24.00
- PolyPhen-2 0.14
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available