S8W (p.Ser8Trp) variant of MCCC1 (Q96RQ3)
S8W (p.Ser8Trp) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S8W (p.Ser8Trp) variant details
- p.Ser8Trp
- TOPMed rs914177076
- gnomAD rs914177076
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.42
- CADD 24.20
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available