N59D (p.Asn59Asp) variant of CMA1 (Chymase)
N59D (p.Asn59Asp) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N59D (p.Asn59Asp) variant details
- p.Asn59Asp
- gnomAD rs1307400505
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 0.30
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available