K49T (p.Lys49Thr) variant of CMA1 (Chymase)
K49T (p.Lys49Thr) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
K49T (p.Lys49Thr) variant details
- p.Lys49Thr
- gnomAD 14-24507419-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 0.00
- PolyPhen-2 0.05
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available