T42P (p.Thr42Pro) variant of MCCC1 (Q96RQ3)
T42P (p.Thr42Pro) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T42P (p.Thr42Pro) variant details
- p.Thr42Pro
- ExAC rs773887269
- gnomAD rs773887269
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.27
- CADD 4.08
- PolyPhen-2 0.06
- SIFT 0.10
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available