T42I (p.Thr42Ile) variant of MCCC1 (Q96RQ3)
T42I (p.Thr42Ile) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T42I (p.Thr42Ile) variant details
- p.Thr42Ile
- TOPMed rs1222631013
- gnomAD rs1222631013
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.20
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available