V172A (p.Val172Ala) variant of EZH2 (Q15910)
V172A (p.Val172Ala) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V172A (p.Val172Ala) variant details
- p.Val172Ala
- rs2537149561
- ClinGen CA369720654
- ClinVar RCV003001890
- Uncertain significance
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.67
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Uncertain significance (Weaver syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)