L129V (p.Leu129Val) variant of EZH1 (Q92800)
L129V (p.Leu129Val) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L129V (p.Leu129Val) variant details
- p.Leu129Val
- cosmic curated COSV10825
- Ensembl rs2053743404
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.59
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:STU population (allele frequency 0.0052)
- Structural context available