P7R (p.Pro7Arg) variant of CMA1 (Chymase)
P7R (p.Pro7Arg) 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 0.21 / 1. The record also includes population frequency data and structural context.
P7R (p.Pro7Arg) variant details
- p.Pro7Arg
- ExAC rs758492989
- gnomAD rs758492989
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.23
- ESM-1b 0.64
- AlphaMissense 0.18
- CADD 0.14
- PolyPhen-2 0.02
- SIFT 0.35
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available