A14S (p.Ala14Ser) variant of MCCC1 (Q96RQ3)
A14S (p.Ala14Ser) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- TOPMed rs931841236
- gnomAD rs931841236
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.35
- CADD 14.90
- PolyPhen-2 0.24
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available