V13A (p.Val13Ala) variant of EZH2 (Q15910)
V13A (p.Val13Ala) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- rs2129485390
- ClinGen CA369708562
- cosmic curated COSV57449
- ClinVar RCV001768799
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- AlphaMissense 0.19
- MetaLR 0.46
- MetaSVM -0.24
- PolyPhen-2 0.00
- SIFT 0.41
- MutPred 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available