E40K (p.Glu40Lys) variant of MTHFR (P42898)
E40K (p.Glu40Lys) in MTHFR (P42898) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- NCI-TCGA Cosmic COSV5674
- cosmic curated COSV56742
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.37
- CADD 21.80
- PolyPhen-2 0.12
- SIFT 0.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available