A68T (p.Ala68Thr) variant of CMA1 (Chymase)
A68T (p.Ala68Thr) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A68T (p.Ala68Thr) variant details
- p.Ala68Thr
- ExAC rs761088628
- gnomAD rs761088628
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 15.10
- PolyPhen-2 0.10
- SIFT 0.51
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available