M111I (p.Met111Ile) variant of MTHFR (P42898)
M111I (p.Met111Ile) 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 0.27 / 1. The record also includes population frequency data and structural context.
M111I (p.Met111Ile) variant details
- p.Met111Ile
- NCI-TCGA Cosmic COSV5674
- cosmic curated COSV56740
- 1000Genomes rs577135269
- ExAC rs577135269
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.25
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available