K6R (p.Lys6Arg) variant of MAP2K2 (P36507)
K6R (p.Lys6Arg) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K6R (p.Lys6Arg) variant details
- p.Lys6Arg
- rs2145090019
- ClinGen CA403396060
- ClinVar RCV002851265
- Ensembl rs2145090019
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.21
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)
- Structural context available