P34H (p.Pro34His) variant of CMA1 (Chymase)
P34H (p.Pro34His) in CMA1 (Chymase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P34H (p.Pro34His) variant details
- p.Pro34His
- NCI-TCGA Cosmic COSV9915
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.69
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available