P20L (p.Pro20Leu) variant of MCCC2 (Q9HCC0)
P20L (p.Pro20Leu) in MCCC2 (Q9HCC0) is a missense change. 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.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- TOPMed rs1397527099
- gnomAD rs1397527099
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.28
- CADD 0.66
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available