T50S (p.Thr50Ser) variant of MCCC1 (Q96RQ3)
T50S (p.Thr50Ser) 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.
T50S (p.Thr50Ser) variant details
- p.Thr50Ser
- ExAC rs772126862
- gnomAD rs772126862
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.27
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.79
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available