M164I (p.Met164Ile) variant of EZH1 (Q92800)
M164I (p.Met164Ile) in EZH1 (Q92800) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
M164I (p.Met164Ile) variant details
- p.Met164Ile
- rs763144680
- ClinGen CA399647424
- ClinVar RCV004385747
- ExAC rs763144680
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.39
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available