L12V (p.Leu12Val) variant of CMA1 (Chymase)
L12V (p.Leu12Val) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- ExAC rs754249339
- gnomAD rs754249339
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.10
- ESM-1b 0.19
- AlphaMissense 0.08
- CADD 7.20
- PolyPhen-2 0.02
- SIFT 0.49
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available