M71V (p.Met71Val) variant of EZH1 (Q92800)
M71V (p.Met71Val) 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 0.50 / 1. The record also includes population frequency data and structural context.
M71V (p.Met71Val) variant details
- p.Met71Val
- rs140377472
- ClinGen CA8583045
- ClinVar RCV004213546
- ESP rs140377472
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- AlphaMissense 0.07
- MetaLR 0.70
- MetaSVM 0.15
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available