V120M (p.Val120Met) variant of MMADHC (Q9H3L0)
V120M (p.Val120Met) in MMADHC (Q9H3L0) 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 0.46 / 1. The record also includes population frequency data and structural context.
V120M (p.Val120Met) variant details
- p.Val120Met
- rs756908515
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10030
- ExAC rs756908515
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.42
- CADD 23.90
- PolyPhen-2 0.72
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available