P47T (p.Pro47Thr) variant of CMA1 (Chymase)
P47T (p.Pro47Thr) 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 and structural context.
P47T (p.Pro47Thr) variant details
- p.Pro47Thr
- ExAC rs747437697
- gnomAD rs747437697
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available