N45K (p.Asn45Lys) variant of CMA1 (Chymase)
N45K (p.Asn45Lys) 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 0.15 / 1. The record also includes population frequency data and structural context.
N45K (p.Asn45Lys) variant details
- p.Asn45Lys
- rs1001813145
- ClinGen CA257906723
- ClinVar RCV004439579
- TOPMed rs1001813145
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available