P47A (p.Pro47Ala) variant of CMA1 (Chymase)
P47A (p.Pro47Ala) 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.
P47A (p.Pro47Ala) variant details
- p.Pro47Ala
- gnomAD 14-24507426-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available