A65T (p.Ala65Thr) variant of CMA1 (Chymase)
A65T (p.Ala65Thr) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
A65T (p.Ala65Thr) variant details
- p.Ala65Thr
- ExAC rs762021583
- gnomAD rs762021583
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.65
- CADD 24.40
- PolyPhen-2 0.70
- SIFT 0.01
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available