A3S (p.Ala3Ser) variant of MCCC2 (Q9HCC0)
A3S (p.Ala3Ser) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- TOPMed rs1245728864
- gnomAD rs1245728864
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.21
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available