N59K (p.Asn59Lys) variant of CMA1 (Chymase)
N59K (p.Asn59Lys) 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 0.38 / 1. The record also includes population frequency data and structural context.
N59K (p.Asn59Lys) variant details
- p.Asn59Lys
- rs200210391
- ClinGen CA257906653
- ClinVar RCV004157169
- 1000Genomes rs200210391
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.28
- ESM-1b 0.76
- AlphaMissense 0.49
- CADD 17.50
- PolyPhen-2 0.38
- SIFT 0.09
- 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