T73K (p.Thr73Lys) variant of CMA1 (Chymase)
T73K (p.Thr73Lys) 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 0.18 / 1. The record also includes population frequency data and structural context.
T73K (p.Thr73Lys) variant details
- p.Thr73Lys
- NCI-TCGA Cosmic COSV1043
- gnomAD rs2043859421
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 6.55
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available