K49E (p.Lys49Glu) variant of CMA1 (Chymase)
K49E (p.Lys49Glu) 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 0.65 / 1. The record also includes structural context.
K49E (p.Lys49Glu) variant details
- p.Lys49Glu
- rs2502588507
- ClinGen CA389265833
- NCI-TCGA Cosmic COSV5162
- ClinVar RCV004120247
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- ESM-1b 1.00
- AlphaMissense 0.23
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available