H66R (p.His66Arg) variant of CMA1 (Chymase)
H66R (p.His66Arg) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
H66R (p.His66Arg) variant details
- p.His66Arg
- rs5247
- UniProt VAR 011771
- 1000Genomes rs5247
- ESP rs5247
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.81
- CADD 22.60
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)