T63K (p.Thr63Lys) variant of CMA1 (Chymase)
T63K (p.Thr63Lys) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
T63K (p.Thr63Lys) variant details
- p.Thr63Lys
- gnomAD 14-24507377-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 24.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available