V172M (p.Val172Met) variant of EZH2 (Q15910)
V172M (p.Val172Met) in EZH2 (Q15910) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
V172M (p.Val172Met) variant details
- p.Val172Met
- cosmic curated COSV10588
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.56
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available