A19T (p.Ala19Thr) variant of CMA1 (Chymase)
A19T (p.Ala19Thr) in CMA1 (Chymase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- ESP rs150093806
- ExAC rs150093806
- TOPMed rs150093806
- gnomAD rs150093806
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 16.50
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available