N45N (p.Asn45Asn) variant of CMA1 (Chymase)
N45N (p.Asn45Asn) in CMA1 (Chymase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
N45N (p.Asn45Asn) variant details
- p.Asn45Asn
- rs1001813145
- gnomAD 14-24507430-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0822
- CADD 0.21
- Most common in the HGDP:MBUTI population (allele frequency 0.21)
- Structural context available
- Literature evidence available