S27L (p.Ser27Leu) variant of MCCC2 (Q9HCC0)
S27L (p.Ser27Leu) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S27L (p.Ser27Leu) variant details
- p.Ser27Leu
- gnomAD rs1252575701
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.33
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available