N59I (p.Asn59Ile) variant of CMA1 (Chymase)
N59I (p.Asn59Ile) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N59I (p.Asn59Ile) variant details
- p.Asn59Ile
- gnomAD 14-24507389-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.64
- CADD 22.90
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Amish population (allele frequency 1)
- Structural context available
- Literature evidence available