K4R (p.Lys4Arg) variant of MAP2K1 (Q02750)
K4R (p.Lys4Arg) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K4R (p.Lys4Arg) variant details
- p.Lys4Arg
- rs761150136
- ClinGen CA7623845
- ClinVar RCV000587428
- ClinVar RCV003539978
- Uncertain significance
- RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.37
- MetaLR 0.44
- MetaSVM -0.39
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (RASopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8e-05)
- Structural context available