R16K (p.Arg16Lys) variant of CMA1 (Chymase)
R16K (p.Arg16Lys) 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.
R16K (p.Arg16Lys) variant details
- p.Arg16Lys
- gnomAD rs2043875380
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 5.94
- PolyPhen-2 0.04
- SIFT 0.38
- Most common in the HGDP:MBUTI population (allele frequency 0.21)
- Structural context available