D104Y (p.Asp104Tyr) variant of MTHFR (P42898)
D104Y (p.Asp104Tyr) 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 0.75 / 1. The record also includes population frequency data and structural context.
D104Y (p.Asp104Tyr) variant details
- p.Asp104Tyr
- NCI-TCGA Cosmic COSV5673
- cosmic curated COSV56739
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.73
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available