M36I (p.Met36Ile) variant of CMA1 (Chymase)
M36I (p.Met36Ile) in CMA1 (Chymase) 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 0.78 / 1. The record also includes population frequency data and structural context.
M36I (p.Met36Ile) variant details
- p.Met36Ile
- ExAC rs763885364
- gnomAD rs763885364
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.80
- CADD 25.80
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available