T42S (p.Thr42Ser) variant of MCCC1 (Q96RQ3)
T42S (p.Thr42Ser) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
T42S (p.Thr42Ser) variant details
- p.Thr42Ser
- ExAC rs773887269
- gnomAD rs773887269
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.20
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available